Publications

Displaying 101 - 200 of 1073
  • Brown, P., & Gaskins, S. (2014). Language acquisition and language socialization. In N. J. Enfield, P. Kockelman, & J. Sidnell (Eds.), Cambridge handbook of linguistic anthropology (pp. 187-226). Cambridge: Cambridge University Press.
  • Brown, P. (2001). Learning to talk about motion UP and DOWN in Tzeltal: Is there a language-specific bias for verb learning? In M. Bowerman, & S. C. Levinson (Eds.), Language acquisition and conceptual development (pp. 512-543). Cambridge: Cambridge University Press.

    Abstract

    The spatial vocabulary of the Mayan language Tzeltal is dominated by an Absolute system of spatial reckoning, whereby an "uphill/downhill" coordinate abstracted from the lay of the land is used to reckon spatial relationships on the horizontal in both small-scale and long distance space. This system is used in lieu of a Front/Back/Left/Right system which does not exist in this language. The spatial vocabulary dedicated to this system (which I refer to in general as the UP/DOWN vocabulary) includes intransitive motion verbs (roughly translatable as "ascend"/"descend"), their transitivized counterparts ("make it ascend/descend"), directional adverbs ("uphillwards"/"downhillwards"), and possessed relational nouns ("uphill/downhill in relation to it"). This same vocabulary applies to spatial relations on the vertical axis. Two seemingly contradictory observations about children's early meanings for the spatial verbs dedicated to this system motivate the proposal put forward in this paper. On the one hand, Tzeltal children's UP/DOWN vocabulary shows very early sensitivity to the semantic structure of the language they are learning: the meanings for these verbs are from the first usages attached to the slope of the land, and to particular places; there is no evidence of an initial preference for the vertical meaning. On the other hand, children's meanings remain for a long time too specific, and errors of interpretation/production (using the verbs to mean 'local slope of land' rather than 'overall N/S slope of land direction) are evident in verbal productions of some children as late as age 7 or 8. The proposal is made that the highly specific nature of Tzeltal verbs at the basic level influences the children's hypotheses about what kinds of meanings verbs can have.
  • Brown, P. (1998). How and why are women more polite: Some evidence from a Mayan community. In J. Coates (Ed.), Language and gender (pp. 81-99). Oxford: Blackwell.
  • Brown, P. (2001). Repetition. In K. Duranti (Ed.), Key terms in language and culture (pp. 219-222). Oxford: Blackwell.

    Abstract

    This is a reprint of the Brown 1999 article.
  • Brown, P., Pfeiler, B., de León, L., & Pye, C. (2013). The acquisition of agreement in four Mayan languages. In E. Bavin, & S. Stoll (Eds.), The acquisition of ergativity (pp. 271-306). Amsterdam: Benjamins.

    Abstract

    This paper presents results of a comparative project documenting the development of verbal agreement inflections in children learning four different Mayan languages: K’iche’, Tzeltal, Tzotzil, and Yukatek. These languages have similar inflectional paradigms: they have a generally agglutinative morphology, with transitive verbs obligatorily marked with separate cross-referencing inflections for the two core arguments (‘ergative’ and ‘absolutive’). Verbs are also inflected for aspect and mood, and they carry a ‘status suffix’ which generally marks verb transitivity and mood. At a more detailed level, the four languages differ strikingly in the realization of cross-reference marking. For each language, we examined longitudinal language production data from two children at around 2;0, 2;6, 3;0, and 3;6 years of age. We relate differences in the acquisition patterns of verbal morphology in the languages to 1) the placement of affixes, 2) phonological and prosodic prominence, 3) language-specific constraints on the various forms of the affixes, and 4) consistent vs. split ergativity, and conclude that prosodic salience accounts provide th ebest explanation for the acquisition patterns in these four languages.

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  • Brown, P., & Levinson, S. C. (1979). Social structure, groups and interaction. In H. Giles, & K. R. Scherer (Eds.), Social markers in speech (pp. 291-341). Cambridge University Press.
  • Brown, P., & Fraser, C. (1979). Speech as a marker of situation. In H. Giles, & K. Scherer (Eds.), Social markers in speech (pp. 33-62). Cambridge: Cambridge University Press.
  • Brown, P. (2001). Politeness and language. In N. Smelser, & P. Baltes (Eds.), International encyclopedia of the social and behavioral sciences (pp. 11620-11624). Oxford: Elsevier Sciences.

    Abstract

    This is an encyclopedia entry surveying research and theoretical approaches to politeness phenomena in language usage.
  • Brown, P., & Levinson, S. C. (1998). Politeness, introduction to the reissue: A review of recent work. In A. Kasher (Ed.), Pragmatics: Vol. 6 Grammar, psychology and sociology (pp. 488-554). London: Routledge.

    Abstract

    This article is a reprint of chapter 1, the introduction to Brown and Levinson, 1987, Politeness: Some universals in language usage (Cambridge University Press).
  • Brown, P. (2014). The interactional context of language learning in Tzeltal. In I. Arnon, M. Casillas, C. Kurumada, & B. Estigarriba (Eds.), Language in Interaction: Studies in honor of Eve V. Clark (pp. 51-82). Amsterdam: Benjamins.

    Abstract

    This paper addresses the theories of Eve Clark about how children learn word meanings in western middle-class interactional contexts by examining child language data from a Tzeltal Maya society in southern Mexico where interaction patterns are radically different. Through examples of caregiver interactions with children 12-30 months old, I ask what lessons we can learn from how the details of these interactions unfold in this non-child-centered cultural context, and specifically, what aspects of the Tzeltal linguistic and interactional context might help to focus children’s attention on the meanings and the conventional forms of words being used around them.
  • Brucato, N., DeLisi, L. E., Fisher, S. E., & Francks, C. (2014). Hypomethylation of the paternally inherited LRRTM1 promoter linked to schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 165(7), 555-563. doi:10.1002/ajmg.b.32258.

    Abstract

    Epigenetic effects on psychiatric traits remain relatively under-studied, and it remains unclear what the sizes of individual epigenetic effects may be, or how they vary between different clinical populations. The gene LRRTM1 (chromosome 2p12) has previously been linked and associated with schizophrenia in a parent-of-origin manner in a set of affected siblings (LOD = 4.72), indirectly suggesting a disruption of paternal imprinting at this locus in these families. From the same set of siblings that originally showed strong linkage at this locus, we analyzed 99 individuals using 454-bisulfite sequencing, from whole blood DNA, to measure the level of DNA methylation in the promoter region of LRRTM1. We also assessed seven additional loci that would be informative to compare. Paternal identity-by-descent sharing at LRRTM1, within sibling pairs, was linked to their similarity of methylation at the gene's promoter. Reduced methylation at the promoter showed a significant association with schizophrenia. Sibling pairs concordant for schizophrenia showed more similar methylation levels at the LRRTM1 promoter than diagnostically discordant pairs. The alleles of common SNPs spanning the locus did not explain this epigenetic linkage, which can therefore be considered as largely independent of DNA sequence variation and would not be detected in standard genetic association analysis. Our data suggest that hypomethylation at the LRRTM1 promoter, particularly of the paternally inherited allele, was a risk factor for the development of schizophrenia in this set of siblings affected with familial schizophrenia, and that had previously showed linkage at this locus in an affected-sib-pair context.
  • Buetti, S., Tamietto, M., Hervais-Adelman, A., Kerzel, D., de Gelder, B., & Pegna, A. J. (2013). Dissociation between goal-directed and discrete response localization in a patient with bilateral cortical blindness. Journal of Cognitive Neuroscience, 25(10), 1769-1775. doi:10.1162/jocn_a_00404.

    Abstract

    We investigated localization performance of simple targets in patient TN, who suffered bilateral damage of his primary visual cortex and shows complete cortical blindness. Using a two-alternative forced-choice paradigm, TN was asked to guess the position of left-right targets with goal-directed and discrete manual responses. The results indicate a clear dissociation between goal-directed and discrete responses. TN pointed toward the correct target location in approximately 75% of the trials but was at chance level with discrete responses. This indicates that the residual ability to localize an unseen stimulus depends critically on the possibility to translate a visual signal into a goal-directed motor output at least in certain forms of blindsight.
  • Bujok, R., Meyer, A. S., & Bosker, H. R. (2024). Audiovisual perception of lexical stress: Beat gestures and articulatory cues. Language and Speech. Advance online publication. doi:10.1177/00238309241258162.

    Abstract

    Human communication is inherently multimodal. Auditory speech, but also visual cues can be used to understand another talker. Most studies of audiovisual speech perception have focused on the perception of speech segments (i.e., speech sounds). However, less is known about the influence of visual information on the perception of suprasegmental aspects of speech like lexical stress. In two experiments, we investigated the influence of different visual cues (e.g., facial articulatory cues and beat gestures) on the audiovisual perception of lexical stress. We presented auditory lexical stress continua of disyllabic Dutch stress pairs together with videos of a speaker producing stress on the first or second syllable (e.g., articulating VOORnaam or voorNAAM). Moreover, we combined and fully crossed the face of the speaker producing lexical stress on either syllable with a gesturing body producing a beat gesture on either the first or second syllable. Results showed that people successfully used visual articulatory cues to stress in muted videos. However, in audiovisual conditions, we were not able to find an effect of visual articulatory cues. In contrast, we found that the temporal alignment of beat gestures with speech robustly influenced participants' perception of lexical stress. These results highlight the importance of considering suprasegmental aspects of language in multimodal contexts.
  • Bulut, T., & Hagoort, P. (2024). Contributions of the left and right thalami to language: A meta-analytic approach. Brain Structure & Function. Advance online publication. doi:10.1007/s00429-024-02795-3.

    Abstract

    Background: Despite a pervasive cortico-centric view in cognitive neuroscience, subcortical structures including the thalamus have been shown to be increasingly involved in higher cognitive functions. Previous structural and functional imaging studies demonstrated cortico-thalamo-cortical loops which may support various cognitive functions including language. However, large-scale functional connectivity of the thalamus during language tasks has not been examined before. Methods: The present study employed meta-analytic connectivity modeling to identify language-related coactivation patterns of the left and right thalami. The left and right thalami were used as regions of interest to search the BrainMap functional database for neuroimaging experiments with healthy participants reporting language-related activations in each region of interest. Activation likelihood estimation analyses were then carried out on the foci extracted from the identified studies to estimate functional convergence for each thalamus. A functional decoding analysis based on the same database was conducted to characterize thalamic contributions to different language functions. Results: The results revealed bilateral frontotemporal and bilateral subcortical (basal ganglia) coactivation patterns for both the left and right thalami, and also right cerebellar coactivations for the left thalamus, during language processing. In light of previous empirical studies and theoretical frameworks, the present connectivity and functional decoding findings suggest that cortico-subcortical-cerebellar-cortical loops modulate and fine-tune information transfer within the bilateral frontotemporal cortices during language processing, especially during production and semantic operations, but also other language (e.g., syntax, phonology) and cognitive operations (e.g., attention, cognitive control). Conclusion: The current findings show that the language-relevant network extends beyond the classical left perisylvian cortices and spans bilateral cortical, bilateral subcortical (bilateral thalamus, bilateral basal ganglia) and right cerebellar regions.

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    supplementary information
  • Bulut, T., & Temiz, G. (2024). Cortical organization of action and object naming in Turkish: A transcranial magnetic stimulation study. Psikoloji Çalışmaları / Studies in Psychology, 44(2), 235-254. doi:10.26650/SP2023-1279982.

    Abstract

    It is controversial whether the linguistic distinction between nouns and verbs is reflected in the cortical organization of the lexicon. Neuropsychological studies of aphasia and neuroimaging studies have associated the left prefrontal cortex, particularly Broca’s area, with verbs/actions, and the left posterior temporal cortex, particularly Wernicke’s area, with nouns/objects. However, more recent research has revealed that evidence for this distinction is inconsistent. Against this background, the present study employed low-frequency repetitive transcranial magnetic stimulation (rTMS) to investigate the dissociation of action and object naming in Broca’s and Wernicke’s areas in Turkish. Thirty-six healthy adult participants took part in the study. In two experiments, low-frequency (1 Hz) inhibitory rTMS was administered at 100% of motor threshold for 10 minutes to suppress the activity of the left prefrontal cortex spanning Broca’s area or the left posterior temporal cortex spanning Wernicke’s area. A picture naming task involving objects and actions was employed before and after the stimulation sessions to examine any pre- to post-stimulation changes in naming latencies. Linear mixed models that included various psycholinguistic covariates including frequency, visual and conceptual complexity, age of acquisition, name agreement and word length were fitted to the data. The findings showed that conceptual complexity, age of acquisition of the target word and name agreement had a significant effect on naming latencies, which was consistent across both experiments. Critically, the findings significantly associated Broca’s area, but not Wernicke’s area, in the distinction between naming objects and actions. Suppression of Broca’s area led to a significant and robust increase in naming latencies (or slowdown) for objects and a marginally significant, but not robust, reduction in naming latencies (or speedup) for actions. The findings suggest that actions and objects in Turkish can be dissociated in Broca’s area.
  • Burchardt, L., Van de Sande, Y., Kehy, M., Gamba, M., Ravignani, A., & Pouw, W. (2024). A toolkit for the dynamic study of air sacs in siamang and other elastic circular structures. PLOS Computational Biology, 20(6): e1012222. doi:10.1371/journal.pcbi.1012222.

    Abstract

    Biological structures are defined by rigid elements, such as bones, and elastic elements, like muscles and membranes. Computer vision advances have enabled automatic tracking of moving animal skeletal poses. Such developments provide insights into complex time-varying dynamics of biological motion. Conversely, the elastic soft-tissues of organisms, like the nose of elephant seals, or the buccal sac of frogs, are poorly studied and no computer vision methods have been proposed. This leaves major gaps in different areas of biology. In primatology, most critically, the function of air sacs is widely debated; many open questions on the role of air sacs in the evolution of animal communication, including human speech, remain unanswered. To support the dynamic study of soft-tissue structures, we present a toolkit for the automated tracking of semi-circular elastic structures in biological video data. The toolkit contains unsupervised computer vision tools (using Hough transform) and supervised deep learning (by adapting DeepLabCut) methodology to track inflation of laryngeal air sacs or other biological spherical objects (e.g., gular cavities). Confirming the value of elastic kinematic analysis, we show that air sac inflation correlates with acoustic markers that likely inform about body size. Finally, we present a pre-processed audiovisual-kinematic dataset of 7+ hours of closeup audiovisual recordings of siamang (Symphalangus syndactylus) singing. This toolkit (https://github.com/WimPouw/AirSacTracker) aims to revitalize the study of non-skeletal morphological structures across multiple species.
  • Burra, N., Hervais-Adelman, A., Kerzel, D., Tamietto, M., de Gelder, B., & Pegna, A. J. (2013). Amygdala Activation for Eye Contact Despite Complete Cortical Blindness. The Journal of Neuroscience, 33(25), 10483-10489. doi:10.1523/jneurosci.3994-12.2013.

    Abstract

    Cortical blindness refers to the loss of vision that occurs after destruction of the primary visual cortex. Although there is no sensory cortex and hence no conscious vision, some cortically blind patients show amygdala activation in response to facial or bodily expressions of emotion. Here we investigated whether direction of gaze could also be processed in the absence of any functional visual cortex. A well-known patient with bilateral destruction of his visual cortex and subsequent cortical blindness was investigated in an fMRI paradigm during which blocks of faces were presented either with their gaze directed toward or away from the viewer. Increased right amygdala activation was found in response to directed compared with averted gaze. Activity in this region was further found to be functionally connected to a larger network associated with face and gaze processing. The present study demonstrates that, in human subjects, the amygdala response to eye contact does not require an intact primary visual cortex.
  • Cai, D., Fonteijn, H. M., Guadalupe, T., Zwiers, M., Wittfeld, K., Teumer, A., Hoogman, M., Arias Vásquez, A., Yang, Y., Buitelaar, J., Fernández, G., Brunner, H. G., Van Bokhoven, H., Franke, B., Hegenscheid, K., Homuth, G., Fisher, S. E., Grabe, H. J., Francks, C., & Hagoort, P. (2014). A genome wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. Genes, Brain and Behavior, 13, 675-685. doi:10.1111/gbb.12157.

    Abstract

    Heschl's gyrus (HG) is a core region of the auditory cortex whose morphology is highly variable across individuals. This variability has been linked to sound perception ability in both speech and music domains. Previous studies show that variations in morphological features of HG, such as cortical surface area and thickness, are heritable. To identify genetic variants that affect HG morphology, we conducted a genome-wide association scan (GWAS) meta-analysis in 3054 healthy individuals using HG surface area and thickness as quantitative traits. None of the single nucleotide polymorphisms (SNPs) showed association P values that would survive correction for multiple testing over the genome. The most significant association was found between right HG area and SNP rs72932726 close to gene DCBLD2 (3q12.1; P=2.77x10(-7)). This SNP was also associated with other regions involved in speech processing. The SNP rs333332 within gene KALRN (3q21.2; P=2.27x10(-6)) and rs143000161 near gene COBLL1 (2q24.3; P=2.40x10(-6)) were associated with the area and thickness of left HG, respectively. Both genes are involved in the development of the nervous system. The SNP rs7062395 close to the X-linked deafness gene POU3F4 was associated with right HG thickness (Xq21.1; P=2.38x10(-6)). This is the first molecular genetic analysis of variability in HG morphology
  • Cai, Z. G., Conell, L., & Holler, J. (2013). Time does not flow without language: Spatial distance affects temporal duration regardless of movement or direction. Psychonomic Bulletin & Review, 20(5), 973-980. doi:10.3758/s13423-013-0414-3.

    Abstract

    Much evidence has suggested that people conceive of time as flowing directionally in transverse space (e.g., from left to right for English speakers). However, this phenomenon has never been tested in a fully nonlinguistic paradigm where neither stimuli nor task use linguistic labels, which raises the possibility that time is directional only when reading/writing direction has been evoked. In the present study, English-speaking participants viewed a video where an actor sang a note while gesturing and reproduced the duration of the sung note by pressing a button. Results showed that the perceived duration of the note was increased by a long-distance gesture, relative to a short-distance gesture. This effect was equally strong for gestures moving from left to right and from right to left and was not dependent on gestures depicting movement through space; a weaker version of the effect emerged with static gestures depicting spatial distance. Since both our gesture stimuli and temporal reproduction task were nonlinguistic, we conclude that the spatial representation of time is nondirectional: Movement contributes, but is not necessary, to the representation of temporal information in a transverse timeline.
  • Calandruccio, L., Brouwer, S., Van Engen, K. J., Dhar, S., & Bradlow, A. R. (2013). Masking release due to linguistic and phonetic dissimilarity between the target and masker speech. American Journal of Audiology, 22, 157-164. doi:10.1044/1059-0889(2013/12-0072.

    Abstract

    Purpose: To investigate masking release for speech maskers for linguistically and phonetically close (English and Dutch) and distant (English and Mandarin) language pairs. Method: Thirty-two monolingual speakers of English with normal audiometric thresholds participated in the study. Data are reported for an English sentence recognition task in English and for Dutch and Mandarin competing speech maskers (Experiment 1) and noise maskers (Experiment 2) that were matched either to the long-term average speech spectra or to the temporal modulations of the speech maskers from Experiment 1. Results: Listener performance increased as the target-tomasker linguistic distance increased (English-in-English < English-in-Dutch < English-in-Mandarin). Conclusion: Spectral differences between maskers can account for some, but not all, of the variation in performance between maskers; however, temporal differences did not seem to play a significant role.
  • Campisi, E., & Ozyurek, A. (2013). Iconicity as a communicative strategy: Recipient design in multimodal demonstrations for adults and children. Journal of Pragmatics, 47, 14-27. doi:10.1016/j.pragma.2012.12.007.

    Abstract

    Humans are the only species that uses communication to teach new knowledge to novices, usually to children (Tomasello, 1999 and Csibra and Gergely, 2006). This context of communication can employ “demonstrations” and it takes place with or without the help of objects (Clark, 1996). Previous research has focused on understanding the nature of demonstrations for very young children and with objects involved. However, little is known about the strategies used in demonstrating an action to an older child in comparison to another adult and without the use of objects, i.e., with gestures only. We tested if during demonstration of an action speakers use different degrees of iconicity in gestures for a child compared to an adult. 18 Italian subjects described to a camera how to make coffee imagining the listener as a 12-year-old child, a novice or an expert adult. While speech was found more informative both for the novice adult and for the child compared to the expert adult, the rate of iconic gestures increased and they were more informative and bigger only for the child compared to both of the adult conditions. Iconicity in gestures can be a powerful communicative strategy in teaching new knowledge to children in demonstrations and this is in line with claims that it can be used as a scaffolding device in grounding knowledge in experience (Perniss et al., 2010).
  • Capilla, A., Schoffelen, J.-M., Paterson, G., Thut, G., & Gross, J. (2014). Dissociated α-band modulations in the dorsal and ventral visual pathways in visuospatial attention and perception. Cerebral Cortex., 24(2), 550-561. doi:10.1093/cercor/bhs343.

    Abstract

    Modulations of occipito-parietal α-band (8–14 Hz) power that are opposite in direction (α-enhancement vs. α-suppression) and origin of generation (ipsilateral vs. contralateral to the locus of attention) are a robust correlate of anticipatory visuospatial attention. Yet, the neural generators of these α-band modulations, their interdependence across homotopic areas, and their respective contribution to subsequent perception remain unclear. To shed light on these questions, we employed magnetoencephalography, while human volunteers performed a spatially cued detection task. Replicating previous findings, we found α-power enhancement ipsilateral to the attended hemifield and contralateral α-suppression over occipitoparietal sensors. Source localization (beamforming) analysis showed that α-enhancement and suppression were generated in 2 distinct brain regions, located in the dorsal and ventral visual streams, respectively. Moreover, α-enhancement and suppression showed different dynamics and contribution to perception. In contrast to the initial and transient dorsal α-enhancement, α-suppression in ventro-lateral occipital cortex was sustained and influenced subsequent target detection. This anticipatory biasing of ventrolateral extrastriate α-activity probably reflects increased receptivity in the brain region specialized in processing upcoming target features. Our results add to current models on the role of α-oscillations in attention orienting by showing that α-enhancement and suppression can be dissociated in time, space, and perceptual relevance.

    Additional information

    Capilla_Suppl_Data.pdf
  • Cappuccio, M. L., Chu, M., & Kita, S. (2013). Pointing as an instrumental gesture: Gaze representation through indication. Humana.Mente: Journal of Philosophical Studies, 24, 125-149.

    Abstract

    We call those gestures “instrumental” that can enhance certain thinking processes of an agent by offering him representational models of his actions in a virtual space of imaginary performative possibilities. We argue that pointing is an instrumental gesture in that it represents geometrical information on one’s own gaze direction (i.e., a spatial model for attentional/ocular fixation/orientation), and provides a ritualized template for initiating gaze coordination and joint attention. We counter two possible objections, asserting respectively that the representational content of pointing is not constitutive, but derived from language, and that pointing directly solicits gaze coordination, without representing it. We consider two studies suggesting that attention and spatial perception are actively modified by one’s own pointing activity: the first study shows that pointing gestures help children link sets of objects to their corresponding number words; the second, that adults are faster and more accurate in counting when they point.
  • Capredon, M., Brucato, N., Tonasso, L., Choesmel-Cadamuro, V., Ricaut, F.-X., Razafindrazaka, H., Ratolojanahary, M. A., Randriamarolaza, L.-P., Champion, B., & Dugoujon, J.-M. (2013). Tracing Arab-Islamic Inheritance in Madagascar: Study of the Y-chromosome and Mitochondrial DNA in the Antemoro. PLoS One, 8(11): e80932. doi:10.1371/journal.pone.0080932.

    Abstract

    Madagascar is located at the crossroads of the Asian and African worlds and is therefore of particular interest for studies on human population migration. Within the large human diversity of the Great Island, we focused our study on a particular ethnic group, the Antemoro. Their culture presents an important Arab-Islamic influence, but the question of an Arab biological inheritance remains unresolved. We analyzed paternal (n=129) and maternal (n=135) lineages of this ethnic group. Although the majority of Antemoro genetic ancestry comes from sub-Saharan African and Southeast Asian gene pools, we observed in their paternal lineages two specific haplogroups (J1 and T1) linked to Middle Eastern origins. This inheritance was restricted to some Antemoro sub-groups. Statistical analyses tended to confirm significant Middle Eastern genetic contribution. This study gives a new perspective to the large human genetic diversity in Madagascar
  • Carrion Castillo, A., Franke, B., & Fisher, S. E. (2013). Molecular genetics of dyslexia: An overview. Dyslexia, 19(4), 214-240. doi:10.1002/dys.1464.

    Abstract

    Dyslexia is a highly heritable learning disorder with a complex underlying genetic architecture. Over the past decade, researchers have pinpointed a number of candidate genes that may contribute to dyslexia susceptibility. Here, we provide an overview of the state of the art, describing how studies have moved from mapping potential risk loci, through identification of associated gene variants, to characterization of gene function in cellular and animal model systems. Work thus far has highlighted some intriguing mechanistic pathways, such as neuronal migration, axon guidance, and ciliary biology, but it is clear that we still have much to learn about the molecular networks that are involved. We end the review by highlighting the past, present, and future contributions of the Dutch Dyslexia Programme to studies of genetic factors. In particular, we emphasize the importance of relating genetic information to intermediate neurobiological measures, as well as the value of incorporating longitudinal and developmental data into molecular designs
  • Casillas, M. (2014). Taking the floor on time: Delay and deferral in children’s turn taking. In I. Arnon, M. Casillas, C. Kurumada, & B. Estigarribia (Eds.), Language in Interaction: Studies in honor of Eve V. Clark (pp. 101-114). Amsterdam: Benjamins.

    Abstract

    A key part of learning to speak with others is figuring out when to start talking and how to hold the floor in conversation. For young children, the challenge of planning a linguistic response can slow down their response latencies, making misunderstanding, repair, and loss of the floor more likely. Like adults, children can mitigate their delays by using fillers (e.g., uh and um) at the start of their turns. In this chapter I analyze the onset and development of fillers in five children’s spontaneous speech from ages 1;6–3;6. My findings suggest that children start using fillers by 2;0, and use them to effectively mitigate delay in making a response.
  • Casillas, M. (2014). Turn-taking. In D. Matthews (Ed.), Pragmatic development in first language acquisition (pp. 53-70). Amsterdam: Benjamins.

    Abstract

    Conversation is a structured, joint action for which children need to learn a specialized set skills and conventions. Because conversation is a primary source of linguistic input, we can better grasp how children become active agents in their own linguistic development by studying their acquisition of conversational skills. In this chapter I review research on children’s turn-taking. This fundamental skill of human interaction allows children to gain feedback, make clarifications, and test hypotheses at every stage of development. I broadly review children’s conversational experiences, the types of turn-based contingency they must acquire, how they ask and answer questions, and when they manage to make timely responses
  • Casillas, M., Foushee, R., Méndez Girón, J., Polian, G., & Brown, P. (2024). Little evidence for a noun bias in Tseltal spontaneous speech. First Language. Advance online publication. doi:10.1177/01427237231216571.

    Abstract

    This study examines whether children acquiring Tseltal (Mayan) demonstrate a noun bias – an overrepresentation of nouns in their early vocabularies. Nouns, specifically concrete and animate nouns, are argued to universally predominate in children’s early vocabularies because their referents are naturally available as bounded concepts to which linguistic labels can be mapped. This early advantage for noun learning has been documented using multiple methods and across a diverse collection of language populations. However, past evidence bearing on a noun bias in Tseltal learners has been mixed. Tseltal grammatical features and child–caregiver interactional patterns dampen the salience of nouns and heighten the salience of verbs, leading to the prediction of a diminished noun bias and perhaps even an early predominance of verbs. We here analyze the use of noun and verb stems in children’s spontaneous speech from egocentric daylong recordings of 29 Tseltal learners between 0;9 and 4;4. We find weak to no evidence for a noun bias using two separate analytical approaches on the same data; one analysis yields a preliminary suggestion of a flipped outcome (i.e. a verb bias). We discuss the implications of these findings for broader theories of learning bias in early lexical development.
  • Castro-Caldas, A., Petersson, K. M., Reis, A., Stone-Elander, S., & Ingvar, M. (1998). The illiterate brain: Learning to read and write during childhood influences the functional organization of the adult brain. Brain, 121, 1053-1063. doi:10.1093/brain/121.6.1053.

    Abstract

    Learning a specific skill during childhood may partly determine the functional organization of the adult brain. This hypothesis led us to study oral language processing in illiterate subjects who, for social reasons, had never entered school and had no knowledge of reading or writing. In a brain activation study using PET and statistical parametric mapping, we compared word and pseudoword repetition in literate and illiterate subjects. Our study confirms behavioural evidence of different phonological processing in illiterate subjects. During repetition of real words, the two groups performed similarly and activated similar areas of the brain. In contrast, illiterate subjects had more difficulty repeating pseudowords correctly and did not activate the same neural structures as literates. These results are consistent with the hypothesis that learning the written form of language (orthography) interacts with the function of oral language. Our results indicate that learning to read and write during childhood influences the functional organization of the adult human brain.
  • Ceroni, F., Simpson, N. H., Francks, C., Baird, G., Conti-Ramsden, G., Clark, A., Bolton, P. F., Hennessy, E. R., Donnelly, P., Bentley, D. R., Martin, H., IMGSAC, SLI Consortium, WGS500 Consortium, Parr, J., Pagnamenta, A. T., Maestrini, E., Bacchelli, E., Fisher, S. E., & Newbury, D. F. (2014). Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. European Journal of Human Genetics, 22, 1165-1171. doi:10.1038/ejhg.2014.4.

    Abstract

    Specific language impairment (SLI), an unexpected failure to develop appropriate language skills despite adequate non-verbal intelligence, is a heterogeneous multifactorial disorder with a complex genetic basis. We identified a homozygous microdeletion of 21,379 bp in the ZNF277 gene (NM_021994.2), encompassing exon 5, in an individual with severe receptive and expressive language impairment. The microdeletion was not found in the proband’s affected sister or her brother who had mild language impairment. However, it was inherited from both parents, each of whom carries a heterozygous microdeletion and has a history of language problems. The microdeletion falls within the AUTS1 locus, a region linked to autistic spectrum disorders (ASDs). Moreover, ZNF277 is adjacent to the DOCK4 and IMMP2L genes, which have been implicated in ASD. We screened for the presence of ZNF277 microdeletions in cohorts of children with SLI or ASD and panels of control subjects. ZNF277 microdeletions were at an increased allelic frequency in SLI probands (1.1%) compared with both ASD family members (0.3%) and independent controls (0.4%). We performed quantitative RT-PCR analyses of the expression of IMMP2L, DOCK4 and ZNF277 in individuals carrying either an IMMP2L_DOCK4 microdeletion or a ZNF277 microdeletion. Although ZNF277 microdeletions reduce the expression of ZNF277, they do not alter the levels of DOCK4 or IMMP2L transcripts. Conversely, IMMP2L_DOCK4 microdeletions do not affect the expression levels of ZNF277. We postulate that ZNF277 microdeletions may contribute to the risk of language impairments in a manner that is independent of the autism risk loci previously described in this region.
  • Çetinçelik, M., Rowland, C. F., & Snijders, T. M. (2024). Does the speaker’s eye gaze facilitate infants’ word segmentation from continuous speech? An ERP study. Developmental Science, 27(2): e13436. doi:10.1111/desc.13436.

    Abstract

    The environment in which infants learn language is multimodal and rich with social cues. Yet, the effects of such cues, such as eye contact, on early speech perception have not been closely examined. This study assessed the role of ostensive speech, signalled through the speaker's eye gaze direction, on infants’ word segmentation abilities. A familiarisation-then-test paradigm was used while electroencephalography (EEG) was recorded. Ten-month-old Dutch-learning infants were familiarised with audio-visual stories in which a speaker recited four sentences with one repeated target word. The speaker addressed them either with direct or with averted gaze while speaking. In the test phase following each story, infants heard familiar and novel words presented via audio-only. Infants’ familiarity with the words was assessed using event-related potentials (ERPs). As predicted, infants showed a negative-going ERP familiarity effect to the isolated familiarised words relative to the novel words over the left-frontal region of interest during the test phase. While the word familiarity effect did not differ as a function of the speaker's gaze over the left-frontal region of interest, there was also a (not predicted) positive-going early ERP familiarity effect over right fronto-central and central electrodes in the direct gaze condition only. This study provides electrophysiological evidence that infants can segment words from audio-visual speech, regardless of the ostensiveness of the speaker's communication. However, the speaker's gaze direction seems to influence the processing of familiar words.
  • Çetinçelik, M., Jordan‐Barros, A., Rowland, C. F., & Snijders, T. M. (2024). The effect of visual speech cues on neural tracking of speech in 10‐month‐old infants. European Journal of Neuroscience. Advance online publication. doi:10.1111/ejn.16492.

    Abstract

    While infants' sensitivity to visual speech cues and the benefit of these cues have been well-established by behavioural studies, there is little evidence on the effect of visual speech cues on infants' neural processing of continuous auditory speech. In this study, we investigated whether visual speech cues, such as the movements of the lips, jaw, and larynx, facilitate infants' neural speech tracking. Ten-month-old Dutch-learning infants watched videos of a speaker reciting passages in infant-directed speech while electroencephalography (EEG) was recorded. In the videos, either the full face of the speaker was displayed or the speaker's mouth and jaw were masked with a block, obstructing the visual speech cues. To assess neural tracking, speech-brain coherence (SBC) was calculated, focusing particularly on the stress and syllabic rates (1–1.75 and 2.5–3.5 Hz respectively in our stimuli). First, overall, SBC was compared to surrogate data, and then, differences in SBC in the two conditions were tested at the frequencies of interest. Our results indicated that infants show significant tracking at both stress and syllabic rates. However, no differences were identified between the two conditions, meaning that infants' neural tracking was not modulated further by the presence of visual speech cues. Furthermore, we demonstrated that infants' neural tracking of low-frequency information is related to their subsequent vocabulary development at 18 months. Overall, this study provides evidence that infants' neural tracking of speech is not necessarily impaired when visual speech cues are not fully visible and that neural tracking may be a potential mechanism in successful language acquisition.

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  • Chalfoun, A., Rossi, G., & Stivers, T. (2024). The magic word? Face-work and the functions of 'please' in everyday requests. Social Psychology Quarterly. doi:10.1177/01902725241245141.

    Abstract

    Expressions of politeness such as 'please' are prominent elements of interactional conduct that are explicitly targeted in early socialization and are subject to cultural expectations around socially desirable behavior. Yet their specific interactional functions remain poorly understood. Using conversation analysis supplemented with systematic coding, this study investigates when and where interactants use 'please' in everyday requests. We find that 'please' is rare, occurring in only 7 percent of request attempts. Interactants use 'please' to manage face-threats when a request is ill fitted to its immediate interactional context. Within this, we identify two environments in which 'please' prototypically occurs. First, 'please' is used when the requestee has demonstrated unwillingness to comply. Second, 'please' is used when the request is intrusive due to its incompatibility with the requestee’s engagement in a competing action trajectory. Our findings advance research on politeness and extend Goffman’s theory of face-work, with particular salience for scholarship on request behavior.
  • Chang, F., & Fitz, H. (2014). Computational models of sentence production: A dual-path approach. In M. Goldrick, & M. Miozzo (Eds.), The Oxford handbook of language production (pp. 70-89). Oxford: Oxford University Press.

    Abstract

    Sentence production is the process we use to create language-specific sentences that convey particular meanings. In production, there are complex interactions between meaning, words, and syntax at different points in sentences. Computational models can make these interactions explicit and connectionist learning algorithms have been useful for building such models. Connectionist models use domaingeneral mechanisms to learn internal representations and these mechanisms can also explain evidence of long-term syntactic adaptation in adult speakers. This paper will review work showing that these models can generalize words in novel ways and learn typologically-different languages like English and Japanese. It will also present modeling work which shows that connectionist learning algorithms can account for complex sentence production in children and adult production phenomena like structural priming, heavy NP shift, and conceptual/lexical accessibility.
  • Chang, F., Kidd, E., & Rowland, C. F. (2013). Prediction in processing is a by-product of language learning [Commentary on Pickering & Garrod: An integrated theory of language production and comprehension]. Behavioral and Brain Sciences, 36(4), 350-351. doi:10.1017/S0140525X12001495.

    Abstract

    Both children and adults predict the content of upcoming language, suggesting that prediction is useful for learning as well as processing. We present an alternative model which can explain prediction behaviour as a by-product of language learning. We suggest that a consideration of language acquisition places important constraints on Pickering & Garrod's (P&G's) theory.
  • Cho, S.-J., Brown-Schmidt, S., Clough, S., & Duff, M. C. (2024). Comparing Functional Trend and Learning among Groups in Intensive Binary Longitudinal Eye-Tracking Data using By-Variable Smooth Functions of GAMM. Psychometrika. Advance online publication. doi:10.1007/s11336-024-09986-1.

    Abstract

    This paper presents a model specification for group comparisons regarding a functional trend over time within a trial and learning across a series of trials in intensive binary longitudinal eye-tracking data. The functional trend and learning effects are modeled using by-variable smooth functions. This model specification is formulated as a generalized additive mixed model, which allowed for the use of the freely available mgcv package (Wood in Package ‘mgcv.’ https://cran.r-project.org/web/packages/mgcv/mgcv.pdf, 2023) in R. The model specification was applied to intensive binary longitudinal eye-tracking data, where the questions of interest concern differences between individuals with and without brain injury in their real-time language comprehension and how this affects their learning over time. The results of the simulation study show that the model parameters are recovered well and the by-variable smooth functions are adequately predicted in the same condition as those found in the application.
  • Christoffels, I. K., Ganushchak, L. Y., & Koester, D. (2013). Language conflict in translation; An ERP study of translation production. Journal of Cognitive Psychology, 25, 646-664. doi:10.1080/20445911.2013.821127.

    Abstract

    Although most bilinguals can translate with relative ease, the underlying neuro-cognitive processes are poorly understood. Using event-related brain potentials (ERPs) we investigated the temporal course of word translation. Participants translated words from and to their first (L1, Dutch) and second (L2, English) language while ERPs were recorded. Interlingual homographs (IHs) were included to introduce language conflict. IHs share orthographic form but have different meanings in L1 and L2 (e.g., room in Dutch refers to cream). Results showed that the brain distinguished between translation directions as early as 200 ms after word presentation: the P2 amplitudes were more positive in the L1L2 translation direction. The N400 was also modulated by translation direction, with more negative amplitudes in the L2L1 translation direction. Furthermore, the IHs were translated more slowly, induced more errors, and elicited more negative N400 amplitudes than control words. In a naming experiment, participants read aloud the same words in L1 or L2 while ERPs were recorded. Results showed no effect of either IHs or language, suggesting that task schemas may be crucially related to language control in translation. Furthermore, translation appears to involve conceptual processing in both translation directions, and the task goal appears to influence how words are processed.

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  • Chu, M., Meyer, A. S., Foulkes, L., & Kita, S. (2014). Individual differences in frequency and saliency of speech-accompanying gestures: The role of cognitive abilities and empathy. Journal of Experimental Psychology: General, 143, 694-709. doi:10.1037/a0033861.

    Abstract

    The present study concerns individual differences in gesture production. We used correlational and multiple regression analyses to examine the relationship between individuals’ cognitive abilities and empathy levels and their gesture frequency and saliency. We chose predictor variables according to experimental evidence of the functions of gesture in speech production and communication. We examined 3 types of gestures: representational gestures, conduit gestures, and palm-revealing gestures. Higher frequency of representational gestures was related to poorer visual and spatial working memory, spatial transformation ability, and conceptualization ability; higher frequency of conduit gestures was related to poorer visual working memory, conceptualization ability, and higher levels of empathy; and higher frequency of palm-revealing gestures was related to higher levels of empathy. The saliency of all gestures was positively related to level of empathy. These results demonstrate that cognitive abilities and empathy levels are related to individual differences in gesture frequency and saliency
  • Chu, M., & Hagoort, P. (2014). Synchronization of speech and gesture: Evidence for interaction in action. Journal of Experimental Psychology: General, 143(4), 1726-1741. doi:10.1037/a0036281.

    Abstract

    Language and action systems are highly interlinked. A critical piece of evidence is that speech and its accompanying gestures are tightly synchronized. Five experiments were conducted to test 2 hypotheses about the synchronization of speech and gesture. According to the interactive view, there is continuous information exchange between the gesture and speech systems, during both their planning and execution phases. According to the ballistic view, information exchange occurs only during the planning phases of gesture and speech, but the 2 systems become independent once their execution has been initiated. In all experiments, participants were required to point to and/or name a light that had just lit up. Virtual reality and motion tracking technologies were used to disrupt their gesture or speech execution. Participants delayed their speech onset when their gesture was disrupted. They did so even when their gesture was disrupted at its late phase and even when they received only the kinesthetic feedback of their gesture. Also, participants prolonged their gestures when their speech was disrupted. These findings support the interactive view and add new constraints on models of speech and gesture production
  • Chwilla, D., Hagoort, P., & Brown, C. M. (1998). The mechanism underlying backward priming in a lexical decision task: Spreading activation versus semantic matching. Quarterly Journal of Experimental Psychology, 51A(3), 531-560. doi:10.1080/713755773.

    Abstract

    Koriat (1981) demonstrated that an association from the target to a preceding prime, in the absence of an association from the prime to the target, facilitates lexical decision and referred to this effect as "backward priming". Backward priming is of relevance, because it can provide information about the mechanism underlying semantic priming effects. Following Neely (1991), we distinguish three mechanisms of priming: spreading activation, expectancy, and semantic matching/integration. The goal was to determine which of these mechanisms causes backward priming, by assessing effects of backward priming on a language-relevant ERP component, the N400, and reaction time (RT). Based on previous work, we propose that the N400 priming effect reflects expectancy and semantic matching/integration, but in contrast with RT does not reflect spreading activation. Experiment 1 shows a backward priming effect that is qualitatively similar for the N400 and RT in a lexical decision task. This effect was not modulated by an ISI manipulation. Experiment 2 clarifies that the N400 backward priming effect reflects genuine changes in N400 amplitude and cannot be ascribed to other factors. We will argue that these backward priming effects cannot be due to expectancy but are best accounted for in terms of semantic matching/integration.
  • Ciulkinyte, A., Mountford, H. S., Fontanillas, P., 23andMe Research Team, Bates, T. C., Martin, N. G., Fisher, S. E., & Luciano, M. (2024). Genetic neurodevelopmental clustering and dyslexia. Molecular Psychiatry. Advance online publication. doi:10.1038/s41380-024-02649-8.

    Abstract

    Dyslexia is a learning difficulty with neurodevelopmental origins, manifesting as reduced accuracy and speed in reading and spelling. It is substantially heritable and frequently co-occurs with other neurodevelopmental conditions, particularly attention deficit-hyperactivity disorder (ADHD). Here, we investigate the genetic structure underlying dyslexia and a range of psychiatric traits using results from genome-wide association studies of dyslexia, ADHD, autism, anorexia nervosa, anxiety, bipolar disorder, major depressive disorder, obsessive compulsive disorder,
    schizophrenia, and Tourette syndrome. Genomic Structural Equation Modelling (GenomicSEM) showed heightened support for a model consisting of five correlated latent genomic factors described as: F1) compulsive disorders (including obsessive-compulsive disorder, anorexia nervosa, Tourette syndrome), F2) psychotic disorder (including bipolar disorder, schizophrenia), F3) internalising disorders (including anxiety disorder, major depressive disorder), F4) neurodevelopmental traits (including autism, ADHD), and F5) attention and learning difficulties (including ADHD, dyslexia). ADHD loaded more strongly on the attention and learning difficulties latent factor (F5) than on the neurodevelopmental traits latent factor (F4). The attention and learning difficulties latent factor (F5) was positively correlated with internalising disorders (.40), neurodevelopmental traits (.25) and psychotic disorders (.17) latent factors, and negatively correlated with the compulsive disorders (–.16) latent factor. These factor correlations are mirrored in genetic correlations observed between the attention and learning difficulties latent factor and other cognitive, psychological and wellbeing traits. We further investigated genetic variants underlying both dyslexia and ADHD, which implicated 49 loci (40 not previously found in GWAS of the individual traits) mapping to 174 genes (121 not found in GWAS of individual traits) as potential pleiotropic variants. Our study confirms the increased genetic relation between dyslexia and ADHD versus other psychiatric traits and uncovers novel pleiotropic variants affecting both traits. In future, analyses including additional co-occurring traits such as dyscalculia and dyspraxia will allow a clearer definition of the attention and learning difficulties latent factor, yielding further insights into factor structure and pleiotropic effects.
  • Clahsen, H., Eisenbeiss, S., Hadler, M., & Sonnenstuhl, I. (2001). The Mental Representation of Inflected Words: An Experimental Study of Adjectives and Verbs in German. Language, 77(3), 510-534. doi:10.1353/lan.2001.0140.

    Abstract

    The authors investigate how morphological relationships between inflected word forms are represented in the mental lexicon, focusing on paradigmatic relations between regularly inflected word forms and relationships between different stem forms of the same lexeme. We present results from a series of psycholinguistic experiments investigating German adjectives (which are inflected for case, number, and gender) and the so-called strong verbs of German, which have different stem forms when inflected for person, number, tense, or mood. Evidence from three lexical-decision experiments indicates that regular affixes are stripped off from their stems for processing purposes. It will be shown that this holds for both unmarked and marked stem forms. Another set of experiments revealed priming effects between different paradigmatically related affixes and between different stem forms of the same lexeme. We will show that associative models of inflection do not capture these findings, and we explain our results in terms of combinatorial models of inflection in which regular affixes are represented in inflectional paradigms and stem variants are represented in structured lexical entries. We will also argue that the morphosyntactic features of stems and affixes form abstract underspecified entries. The experimental results indicate that the human language processor makes use of these representations.

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  • Clifton, C. J., Meyer, A. S., Wurm, L. H., & Treiman, R. (2013). Language comprehension and production. In A. F. Healy, & R. W. Proctor (Eds.), Handbook of Psychology, Volume 4, Experimental Psychology. 2nd Edition (pp. 523-547). Hoboken, NJ: Wiley.

    Abstract

    In this chapter, we survey the processes of recognizing and producing words and of understanding and creating sentences. Theory and research on these topics have been shaped by debates about how various sources of information are integrated in these processes, and about the role of language structure, as analyzed in the discipline of linguistics. In this chapter, we describe current views of fluent language users' comprehension of spoken and written language and their production of spoken language. We review what we consider to be the most important findings and theories in psycholinguistics, returning again and again to the questions of modularity and the importance of linguistic knowledge. Although we acknowledge the importance of social factors in language use, our focus is on core processes such as parsing and word retrieval that are not necessarily affected by such factors. We do not have space to say much about the important fields of developmental psycholinguistics, which deals with the acquisition of language by children, or applied psycholinguistics, which encompasses such topics as language disorders and language teaching. Although we recognize that there is burgeoning interest in the measurement of brain activity during language processing and how language is represented in the brain, space permits only occasional pointers to work in neuropsychology and the cognitive neuroscience of language. For treatment of these topics, and others, the interested reader could begin with two recent handbooks of psycholinguistics (Gaskell, 2007; Traxler & Gemsbacher, 2006) and a handbook of cognitive neuroscience (Gazzaniga, 2004).
  • Cohen, E., & Haun, D. B. M. (2013). The development of tag-based cooperation via a socially acquired trait. Evolution and Human Behavior, 24, 230-235. doi:10.1016/j.evolhumbehav.2013.02.001.

    Abstract

    Recent theoretical models have demonstrated that phenotypic traits can support the non-random assortment of cooperators in a population, thereby permitting the evolution of cooperation. In these “tag-based models”, cooperators modulate cooperation according to an observable and hard-to-fake trait displayed by potential interaction partners. Socially acquired vocalizations in general, and speech accent among humans in particular, are frequently proposed as hard to fake and hard to hide traits that display sufficient cross-populational variability to reliably guide such social assortment in fission–fusion societies. Adults’ sensitivity to accent variation in social evaluation and decisions about cooperation is well-established in sociolinguistic research. The evolutionary and developmental origins of these biases are largely unknown, however. Here, we investigate the influence of speech accent on 5–10-year-old children's developing social and cooperative preferences across four Brazilian Amazonian towns. Two sites have a single dominant accent, and two sites have multiple co-existing accent varieties. We found that children's friendship and resource allocation preferences were guided by accent only in sites characterized by accent heterogeneity. Results further suggest that this may be due to a more sensitively tuned ear for accent variation. The demonstrated local-accent preference did not hold in the face of personal cost. Results suggest that mechanisms guiding tag-based assortment are likely tuned according to locally relevant tag-variation.

    Additional information

    Cohen_Suppl_Mat_2013.docx
  • Connell, L., Cai, Z. G., & Holler, J. (2013). Do you see what I'm singing? Visuospatial movement biases pitch perception. Brain and Cognition, 81, 124-130. doi:10.1016/j.bandc.2012.09.005.

    Abstract

    The nature of the connection between musical and spatial processing is controversial. While pitch may be described in spatial terms such as “high” or “low”, it is unclear whether pitch and space are associated but separate dimensions or whether they share representational and processing resources. In the present study, we asked participants to judge whether a target vocal note was the same as (or different from) a preceding cue note. Importantly, target trials were presented as video clips where a singer sometimes gestured upward or downward while singing that target note, thus providing an alternative, concurrent source of spatial information. Our results show that pitch discrimination was significantly biased by the spatial movement in gesture, such that downward gestures made notes seem lower in pitch than they really were, and upward gestures made notes seem higher in pitch. These effects were eliminated by spatial memory load but preserved under verbal memory load conditions. Together, our findings suggest that pitch and space have a shared representation such that the mental representation of pitch is audiospatial in nature.
  • Cooper, R. P., & Guest, O. (2014). Implementations are not specifications: Specification, replication and experimentation in computational cognitive modeling. Cognitive Systems Research, 27, 42-49. doi:10.1016/j.cogsys.2013.05.001.

    Abstract

    Contemporary methods of computational cognitive modeling have recently been criticized by Addyman and French (2012) on the grounds that they have not kept up with developments in computer technology and human–computer interaction. They present a manifesto for change according to which, it is argued, modelers should devote more effort to making their models accessible, both to non-modelers (with an appropriate easy-to-use user interface) and modelers alike. We agree that models, like data, should be freely available according to the normal standards of science, but caution against confusing implementations with specifications. Models may embody theories, but they generally also include implementation assumptions. Cognitive modeling methodology needs to be sensitive to this. We argue that specification, replication and experimentation are methodological approaches that can address this issue.
  • Coopmans, C. W., Mai, A., & Martin, A. E. (2024). “Not” in the brain and behavior. PLOS Biology, 22: e3002656. doi:10.1371/journal.pbio.3002656.
  • Cornelis, S. S., IntHout, J., Runhart, E. H., Grunewald, O., Lin, S., Corradi, Z., Khan, M., Hitti-Malin, R. J., Whelan, L., Farrar, G. J., Sharon, D., Van den Born, L. I., Arno, G., Simcoe, M., Michaelides, M., Webster, A. R., Roosing, S., Mahroo, O. A., Dhaenens, C.-M., Cremers, F. P. M. Cornelis, S. S., IntHout, J., Runhart, E. H., Grunewald, O., Lin, S., Corradi, Z., Khan, M., Hitti-Malin, R. J., Whelan, L., Farrar, G. J., Sharon, D., Van den Born, L. I., Arno, G., Simcoe, M., Michaelides, M., Webster, A. R., Roosing, S., Mahroo, O. A., Dhaenens, C.-M., Cremers, F. P. M., & ABCA4 Study Group (2024). Representation of women among individuals with mild variants in ABCA4-associated retinopathy: A meta-analysis. JAMA Ophthalmology, 142(5), 463-471. doi:10.1001/jamaophthalmol.2024.0660.

    Abstract

    Importance
    Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4-associated retinopathy.

    Objective
    To investigate whether women are overrepresented among individuals with ABCA4-associated retinopathy who are carrying at least 1 mild allele or carrying nonmild alleles.

    Data Sources
    Literature data, data from 2 European centers, and a new study. Data from a Radboudumc database and from the Rotterdam Eye Hospital were used for exploratory hypothesis testing.

    Study Selection
    Studies investigating the sex ratio in individuals with ABCA4-AR and data from centers that collected ABCA4 variant and sex data. The literature search was performed on February 1, 2023; data from the centers were from before 2023.

    Data Extraction and Synthesis
    Random-effects meta-analyses were conducted to test whether the proportions of women among individuals with ABCA4-associated retinopathy with mild and nonmild variants differed from 0.5, including subgroup analyses for mild alleles. Sensitivity analyses were performed excluding data with possibly incomplete variant identification. χ2 Tests were conducted to compare the proportions of women in adult-onset autosomal non–ABCA4-associated retinopathy and adult-onset ABCA4-associated retinopathy and to investigate if women with suspected ABCA4-associated retinopathy are more likely to obtain a genetic diagnosis. Data analyses were performed from March to October 2023.

    Main Outcomes and Measures
    Proportion of women per ABCA4-associated retinopathy group. The exploratory testing included sex ratio comparisons for individuals with ABCA4-associated retinopathy vs those with other autosomal retinopathies and for individuals with ABCA4-associated retinopathy who underwent genetic testing vs those who did not.

    Results
    Women were significantly overrepresented in the mild variant group (proportion, 0.59; 95% CI, 0.56-0.62; P < .001) but not in the nonmild variant group (proportion, 0.50; 95% CI, 0.46-0.54; P = .89). Sensitivity analyses confirmed these results. Subgroup analyses on mild variants showed differences in the proportions of women. Furthermore, in the Radboudumc database, the proportion of adult women among individuals with ABCA4-associated retinopathy (652/1154 = 0.56) was 0.10 (95% CI, 0.05-0.15) higher than among individuals with other retinopathies (280/602 = 0.47).

    Conclusions and Relevance
    This meta-analysis supports the likelihood that sex is a modifier in developing ABCA4-associated retinopathy for individuals with a mild ABCA4 allele. This finding may be relevant for prognosis predictions and recurrence risks for individuals with ABCA4-associated retinopathy. Future studies should further investigate whether the overrepresentation of women is caused by differences in the disease mechanism, by differences in health care–seeking behavior, or by health care discrimination between women and men with ABCA4-AR.
  • Corps, R. E., & Pickering, M. (2024). Response planning during question-answering: Does deciding what to say involve deciding how to say it? Psychonomic Bulletin & Review, 31, 839-848. doi:10.3758/s13423-023-02382-3.

    Abstract

    To answer a question, speakers must determine their response and formulate it in words. But do they decide on a response before formulation, or do they formulate different potential answers before selecting one? We addressed this issue in a verbal question-answering experiment. Participants answered questions more quickly when they had one potential answer (e.g., Which tourist attraction in Paris is very tall?) than when they had multiple potential answers (e.g., What is the name of a Shakespeare play?). Participants also answered more quickly when the set of potential answers were on average short rather than long, regardless of whether there was only one or multiple potential answers. Thus, participants were not affected by the linguistic complexity of unselected but plausible answers. These findings suggest that participants select a single answer before formulation.
  • Corps, R. E., & Pickering, M. (2024). The role of answer content and length when preparing answers to questions. Scientific Reports, 14: 17110. doi:10.1038/s41598-024-68253-6.

    Abstract

    Research suggests that interlocutors manage the timing demands of conversation by preparing what they want to say early. In three experiments, we used a verbal question-answering task to investigate what aspects of their response speakers prepare early. In all three experiments, participants answered more quickly when the critical content (here, barks) necessary for answer preparation occurred early (e.g., Which animal barks and is also a common household pet?) rather than late (e.g., Which animal is a common household pet and also barks?). In the individual experiments, we found no convincing evidence that participants were slower to produce longer answers, consisting of multiple words, than shorter answers, consisting of a single word. There was also no interaction between these two factors. A combined analysis of the first two experiments confirmed this lack of interaction, and demonstrated that participants were faster to answer questions when the critical content was available early rather than late and when the answer was short rather than long. These findings provide tentative evidence for an account in which interlocutors prepare the content of their answer as soon as they can, but sometimes do not prepare its length (and thus form) until they are ready to speak.

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  • Corps, R. E., & Meyer, A. S. (2024). The influence of familiarisation and item repetition on the name agreement effect in picture naming. Quarterly Journal of Experimental Psychology. Advance online publication. doi:10.1177/17470218241274661.

    Abstract

    Name agreement (NA) refers to the degree to which speakers agree on a picture’s name. A robust finding is that speakers are faster to name pictures with high agreement (HA) than those with low agreement (LA). This NA effect is thought to occur because LA pictures strongly activate several names, and so speakers need time to select one. HA pictures, in contrast, strongly activate a single name and so there is no need to select one name out of several alternatives. Recent models of lexical access suggest that the structure of the mental lexicon changes with experience. Thus, speakers should consider a range of names when naming LA pictures, but the extent to which they consider each of these names should change with experience. We tested these hypotheses in two picture-naming experiments. In Experiment 1, participants were faster to name LA than HA pictures when they named each picture once. Importantly, they were faster to produce modal names (provided by most participants) than alternative names for LA pictures, consistent with the view that speakers activate multiple names for LA pictures. In Experiment 2, participants were familiarised with the modal name before the experiment and named each picture three times. Although there was still an NA effect when participants named the pictures the first time, it was reduced in comparison to Experiment 1 and was further reduced with each picture repetition.Thus, familiarisation and repetition reduced the NA effect, but did not eliminate it, suggesting speakers activate a range of plausible names.
  • Costa, A., Cutler, A., & Sebastian-Galles, N. (1998). Effects of phoneme repertoire on phoneme decision. Perception and Psychophysics, 60, 1022-1031.

    Abstract

    In three experiments, listeners detected vowel or consonant targets in lists of CV syllables constructed from five vowels and five consonants. Responses were faster in a predictable context (e.g., listening for a vowel target in a list of syllables all beginning with the same consonant) than in an unpredictable context (e.g., listening for a vowel target in a list of syllables beginning with different consonants). In Experiment 1, the listeners’ native language was Dutch, in which vowel and consonant repertoires are similar in size. The difference between predictable and unpredictable contexts was comparable for vowel and consonant targets. In Experiments 2 and 3, the listeners’ native language was Spanish, which has four times as many consonants as vowels; here effects of an unpredictable consonant context on vowel detection were significantly greater than effects of an unpredictable vowel context on consonant detection. This finding suggests that listeners’ processing of phonemes takes into account the constitution of their language’s phonemic repertoire and the implications that this has for contextual variability.
  • Cousijn, H., Eissing, M., Fernández, G., Fisher, S. E., Franke, B., Zwers, M., Harrison, P. J., & Arias-Vasquez, A. (2014). No effect of schizophrenia risk genes MIR137, TCF4, and ZNF804A on macroscopic brain structure. Schizophrenia Research, 159, 329-332. doi:10.1016/j.schres.2014.08.007.

    Abstract

    Single nucleotide polymorphisms (SNPs) within the MIR137, TCF4, and ZNF804A genes show genome-wide association to schizophrenia. However, the biological basis for the associations is unknown. Here, we tested the effects of these genes on brain structure in 1300 healthy adults. Using volumetry and voxel-based morphometry, neither gene-wide effects—including the combined effect of the genes—nor single SNP effects—including specific psychosis risk SNPs—were found on total brain volume, grey matter, white matter, or hippocampal volume. These results suggest that the associations between these risk genes and schizophrenia are unlikely to be mediated via effects on macroscopic brain structure.
  • Cousminer, D. L., Berry, D. J., Timpson, N. J., Ang, W., Thiering, E., Byrne, E. M., Taal, H. R., Huikari, V., Bradfield, J. P., Kerkhof, M., Groen-Blokhuis, M. M., Kreiner-Møller, E., Marinelli, M., Holst, C., Leinonen, J. T., Perry, J. R. B., Surakka, I., Pietiläinen, O., Kettunen, J., Anttila, V. and 50 moreCousminer, D. L., Berry, D. J., Timpson, N. J., Ang, W., Thiering, E., Byrne, E. M., Taal, H. R., Huikari, V., Bradfield, J. P., Kerkhof, M., Groen-Blokhuis, M. M., Kreiner-Møller, E., Marinelli, M., Holst, C., Leinonen, J. T., Perry, J. R. B., Surakka, I., Pietiläinen, O., Kettunen, J., Anttila, V., Kaakinen, M., Sovio, U., Pouta, A., Das, S., Lagou, V., Power, C., Prokopenko, I., Evans, D. M., Kemp, J. P., St Pourcain, B., Ring, S., Palotie, A., Kajantie, E., Osmond, C., Lehtimäki, T., Viikari, J. S., Kähönen, M., Warrington, N. M., Lye, S. J., Palmer, L. J., Tiesler, C. M. T., Flexeder, C., Montgomery, G. W., Medland, S. E., Hofman, A., Hakonarson, H., Guxens, M., Bartels, M., Salomaa, V., Murabito, J. M., Kaprio, J., Sørensen, T. I. A., Ballester, F., Bisgaard, H., Boomsma, D. I., Koppelman, G. H., Grant, S. F. A., Jaddoe, V. W. V., Martin, N. G., Heinrich, J., Pennell, C. E., Raitakari, O. T., Eriksson, J. G., Smith, G. D., Hyppönen, E., Järvelin, M.-R., McCarthy, M. I., Ripatti, S., Widén, E., Consortium ReproGen, & Consortium Early Growth Genetics (EGG) (2013). Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. Human Molecular Genetics, 22(13), 2735-2747. doi:10.1093/hmg/ddt104.

    Abstract

    The pubertal height growth spurt is a distinctive feature of childhood growth reflecting both the central onset of puberty and local growth factors. Although little is known about the underlying genetics, growth variability during puberty correlates with adult risks for hormone-dependent cancer and adverse cardiometabolic health. The only gene so far associated with pubertal height growth, LIN28B, pleiotropically influences childhood growth, puberty and cancer progression, pointing to shared underlying mechanisms. To discover genetic loci influencing pubertal height and growth and to place them in context of overall growth and maturation, we performed genome-wide association meta-analyses in 18 737 European samples utilizing longitudinally collected height measurements. We found significant associations (P < 1.67 × 10(-8)) at 10 loci, including LIN28B. Five loci associated with pubertal timing, all impacting multiple aspects of growth. In particular, a novel variant correlated with expression of MAPK3, and associated both with increased prepubertal growth and earlier menarche. Another variant near ADCY3-POMC associated with increased body mass index, reduced pubertal growth and earlier puberty. Whereas epidemiological correlations suggest that early puberty marks a pathway from rapid prepubertal growth to reduced final height and adult obesity, our study shows that individual loci associating with pubertal growth have variable longitudinal growth patterns that may differ from epidemiological observations. Overall, this study uncovers part of the complex genetic architecture linking pubertal height growth, the timing of puberty and childhood obesity and provides new information to pinpoint processes linking these traits.
  • Crago, M. B., & Allen, S. E. M. (1998). Acquiring Inuktitut. In O. L. Taylor, & L. Leonard (Eds.), Language Acquisition Across North America: Cross-Cultural And Cross-Linguistic Perspectives (pp. 245-279). San Diego, CA, USA: Singular Publishing Group, Inc.
  • Crago, M. B., Chen, C., Genesee, F., & Allen, S. E. M. (1998). Power and deference. Journal for a Just and Caring Education, 4(1), 78-95.
  • Cristia, A., Dupoux, E., Hakuno, Y., Lloyd-Fox, S., Schuetze, M., Kivits, J., Bergvelt, T., Van Gelder, M., Filippin, L., Charron, S., & Minagawa-Kawai, Y. (2013). An online database of infant functional Near InfraRed Spectroscopy studies: A community-augmented systematic review. PLoS One, 8(3): e58906. doi:10.1371/journal.pone.0058906.

    Abstract

    Until recently, imaging the infant brain was very challenging. Functional Near InfraRed Spectroscopy (fNIRS) is a promising, relatively novel technique, whose use is rapidly expanding. As an emergent field, it is particularly important to share methodological knowledge to ensure replicable and robust results. In this paper, we present a community-augmented database which will facilitate precisely this exchange. We tabulated articles and theses reporting empirical fNIRS research carried out on infants below three years of age along several methodological variables. The resulting spreadsheet has been uploaded in a format allowing individuals to continue adding new results, and download the most recent version of the table. Thus, this database is ideal to carry out systematic reviews. We illustrate its academic utility by focusing on the factors affecting three key variables: infant attrition, the reliability of oxygenated and deoxygenated responses, and signal-to-noise ratios. We then discuss strengths and weaknesses of the DBIfNIRS, and conclude by suggesting a set of simple guidelines aimed to facilitate methodological convergence through the standardization of reports.
  • Cristia, A. (2013). Input to language: The phonetics of infant-directed speech. Language and Linguistics Compass, 7, 157-170. doi:10.1111/lnc3.12015.

    Abstract

    Over the first year of life, infant perception changes radically as the child learns the phonology of the ambient language from the speech she is exposed to. Since infant-directed speech attracts the child's attention more than other registers, it is necessary to describe that input in order to understand language development, and to address questions of learnability. In this review, evidence from corpora analyses, experimental studies, and observational paradigms is brought together to outline the first comprehensive empirical picture of infant-directed speech and its effects on language acquisition. The ensuing landscape suggests that infant-directed speech provides an emotionally and linguistically rich input to language acquisition

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  • Cristia, A., Minagawa-Kawai, Y., Egorova, N., Gervain, J., Filippin, L., Cabrol, D., & Dupoux, E. (2014). Neural correlates of infant accent discrimination: An fNIRS study. Developmental Science, 17(4), 628-635. doi:10.1111/desc.12160.

    Abstract

    The present study investigated the neural correlates of infant discrimination of very similar linguistic varieties (Quebecois and Parisian French) using functional Near InfraRed Spectroscopy. In line with previous behavioral and electrophysiological data, there was no evidence that 3-month-olds discriminated the two regional accents, whereas 5-month-olds did, with the locus of discrimination in left anterior perisylvian regions. These neuroimaging results suggest that a developing language network relying crucially on left perisylvian cortices sustains infants' discrimination of similar linguistic varieties within this early period of infancy.

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  • Cristia, A., Mielke, J., Daland, R., & Peperkamp, S. (2013). Similarity in the generalization of implicitly learned sound patterns. Journal of Laboratory Phonology, 4(2), 259-285.

    Abstract

    A core property of language is the ability to generalize beyond observed examples. In two experiments, we explore how listeners generalize implicitly learned sound patterns to new nonwords and to new sounds, with the goal of shedding light on how similarity affects treatment of potential generalization targets. During the exposure phase, listeners heard nonwords whose onset consonant was restricted to a subset of a natural class (e.g., /d g v z Z/). During the test phase, listeners were presented with new nonwords and asked to judge how frequently they had been presented before; some of the test items began with a consonant from the exposure set (e.g., /d/), and some began with novel consonants with varying relations to the exposure set (e.g., /b/, which is highly similar to all onsets in the training set; /t/, which is highly similar to one of the training onsets; and /p/, which is less similar than the other two). The exposure onset was rated most frequent, indicating that participants encoded onset attestation in the exposure set, and generalized it to new nonwords. Participants also rated novel consonants as somewhat frequent, indicating generalization to onsets that did not occur in the exposure phase. While generalization could be accounted for in terms of featural distance, it was insensitive to natural class structure. Generalization to new sounds was predicted better by models requiring prior linguistic knowledge (either traditional distinctive features or articulatory phonetic information) than by a model based on a linguistically naïve measure of acoustic similarity.
  • Cristia, A., Seidl, A., Junge, C., Soderstrom, M., & Hagoort, P. (2014). Predicting individual variation in language from infant speech perception measures. Child development, 85(4), 1330-1345. doi:10.1111/cdev.12193.

    Abstract

    There are increasing reports that individual variation in behavioral and neurophysiological measures of infant speech processing predicts later language outcomes, and specifically concurrent or subsequent vocabulary size. If such findings are held up under scrutiny, they could both illuminate theoretical models of language development and contribute to the prediction of communicative disorders. A qualitative, systematic review of this emergent literature illustrated the variety of approaches that have been used and highlighted some conceptual problems regarding the measurements. A quantitative analysis of the same data established that the bivariate relation was significant, with correlations of similar strength to those found for well-established nonlinguistic predictors of language. Further exploration of infant speech perception predictors, particularly from a methodological perspective, is recommended.
  • Cristia, A., & Seidl, A. (2014). The hyperarticulation hypothesis of infant-directed speech. Journal of Child Language, 41(4), 913-934. doi:10.1017/S0305000912000669.

    Abstract

    Typically, the point vowels [i,ɑ,u] are acoustically more peripheral in infant-directed speech (IDS) compared to adult-directed speech (ADS). If caregivers seek to highlight lexically relevant contrasts in IDS, then two sounds that are contrastive should become more distinct, whereas two sounds that are surface realizations of the same underlying sound category should not. To test this prediction, vowels that are phonemically contrastive ([i-ɪ] and [eɪ-ε]), vowels that map onto the same underlying category ([æ- ] and [ε- ]), and the point vowels [i,ɑ,u] were elicited in IDS and ADS by American English mothers of two age groups of infants (four- and eleven-month-olds). As in other work, point vowels were produced in more peripheral positions in IDS compared to ADS. However, there was little evidence of hyperarticulation per se (e.g. [i-ɪ] was hypoarticulated). We suggest that across-the-board lexically based hyperarticulation is not a necessary feature of IDS.

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  • Cronin, K. A. (2013). [Review of the book Chimpanzees of the Lakeshore: Natural history and culture at Mahale by Toshisada Nishida]. Animal Behaviour, 85, 685-686. doi:10.1016/j.anbehav.2013.01.001.

    Abstract

    First paragraph: Motivated by his quest to characterize the society of the last common ancestor of humans and other great apes, Toshisada Nishida set out as a graduate student to the Mahale Mountains on the eastern shore of Lake Tanganyika, Tanzania. This book is a story of his 45 years with the Mahale chimpanzees, or as he calls it, their ethnography. Beginning with his accounts of meeting the Tongwe people and the challenges of provisioning the chimpanzees for habituation, Nishida reveals how he slowly unravelled the unit group and community basis of chimpanzee social organization. The book begins and ends with a feeling of chronological order, starting with his arrival at Mahale and ending with an eye towards the future, with concrete recommendations for protecting wild chimpanzees. However, the bulk of the book is topically organized with chapters on feeding behaviour, growth and development, play and exploration, communication, life histories, sexual strategies, politics and culture.
  • Cronin, K. A., Pieper, B., Van Leeuwen, E. J. C., Mundry, R., & Haun, D. B. M. (2014). Problem solving in the presence of others: How rank and relationship quality impact resource acquisition in chimpanzees (Pan troglodytes). PLoS One, 9(4): e93204. doi:10.1371/journal.pone.0093204.

    Abstract

    In the wild, chimpanzees (Pan troglodytes) are often faced with clumped food resources that they may know how to access but abstain from doing so due to social pressures. To better understand how social settings influence resource acquisition, we tested fifteen semi-wild chimpanzees from two social groups alone and in the presence of others. We investigated how resource acquisition was affected by relative social dominance, whether collaborative problem solving or (active or passive) sharing occurred amongst any of the dyads, and whether these outcomes were related to relationship quality as determined from six months of observational data. Results indicated that chimpanzees, regardless of rank, obtained fewer rewards when tested in the presence of others compared to when they were tested alone. Chimpanzees demonstrated behavioral inhibition; chimpanzees who showed proficient skill when alone often abstained from solving the task when in the presence of others. Finally, individuals with close social relationships spent more time together in the problem solving space, but collaboration and sharing were infrequent and sessions in which collaboration or sharing did occur contained more instances of aggression. Group living provides benefits and imposes costs, and these findings highlight that one cost of group living may be diminishing productive individual behaviors.
  • Cronin, K. A., Van Leeuwen, E. J. C., Vreeman, V., & Haun, D. B. M. (2014). Population-level variability in the social climates of four chimpanzee societies. Evolution and Human Behavior, 35(5), 389-396. doi:10.1016/j.evolhumbehav.2014.05.004.

    Abstract

    Recent debates have questioned the extent to which culturally-transmitted norms drive behavioral variation in resource sharing across human populations. We shed new light on this discussion by examining the group-level variation in the social dynamics and resource sharing of chimpanzees, a species that is highly social and forms long-term community associations but differs from humans in the extent to which cultural norms are adopted and enforced. We rely on theory developed in primate socioecology to guide our investigation in four neighboring chimpanzee groups at a sanctuary in Zambia. We used a combination of experimental and observational approaches to assess the distribution of resource holding potential in each group. In the first assessment, we measured the proportion of the population that gathered in a resource-rich zone, in the second we assessed naturally occurring social spacing via social network analysis, and in the third we assessed the degree to which benefits were equally distributed within the group. We report significant, stable group-level variation across these multiple measures, indicating that group-level variation in resource sharing and social tolerance is not necessarily reliant upon human-like cultural norms.
  • Yu, Y., Cui, H., Haas, S. S., New, F., Sanford, N., Yu, K., Zhan, D., Yang, G., Gao, J., Wei, D., Qiu, J., Banaj, N., Boomsma, D. I., Breier, A., Brodaty, H., Buckner, R. L., Buitelaar, J. K., Cannon, D. M., Caseras, X., Clark, V. P. Yu, Y., Cui, H., Haas, S. S., New, F., Sanford, N., Yu, K., Zhan, D., Yang, G., Gao, J., Wei, D., Qiu, J., Banaj, N., Boomsma, D. I., Breier, A., Brodaty, H., Buckner, R. L., Buitelaar, J. K., Cannon, D. M., Caseras, X., Clark, V. P., Conrod, P. J., Crivello, F., Crone, E. A., Dannlowski, U., Davey, C. G., De Haan, L., De Zubicaray, G. I., Di Giorgio, A., Fisch, L., Fisher, S. E., Franke, B., Glahn, D. C., Grotegerd, D., Gruber, O., Gur, R. E., Gur, R. C., Hahn, T., Harrison, B. J., Hatton, S., Hickie, I. B., Hulshoff Pol, H. E., Jamieson, A. J., Jernigan, T. L., Jiang, J., Kalnin, A. J., Kang, S., Kochan, N. A., Kraus, A., Lagopoulos, J., Lazaro, L., McDonald, B. C., McDonald, C., McMahon, K. L., Mwangi, B., Piras, F., Rodriguez‐Cruces, R., Royer, J., Sachdev, P. S., Satterthwaite, T. D., Saykin, A. J., Schumann, G., Sevaggi, P., Smoller, J. W., Soares, J. C., Spalletta, G., Tamnes, C. K., Trollor, J. N., Van't Ent, D., Vecchio, D., Walter, H., Wang, Y., Weber, B., Wen, W., Wierenga, L. M., Williams, S. C. R., Wu, M., Zunta‐Soares, G. B., Bernhardt, B., Thompson, P., Frangou, S., Ge, R., & ENIGMA-Lifespan Working Group (2024). Brain‐age prediction: Systematic evaluation of site effects, and sample age range and size. Human Brain Mapping, 45(10): e26768. doi:10.1002/hbm.26768.

    Abstract

    Structural neuroimaging data have been used to compute an estimate of the biological age of the brain (brain-age) which has been associated with other biologically and behaviorally meaningful measures of brain development and aging. The ongoing research interest in brain-age has highlighted the need for robust and publicly available brain-age models pre-trained on data from large samples of healthy individuals. To address this need we have previously released a developmental brain-age model. Here we expand this work to develop, empirically validate, and disseminate a pre-trained brain-age model to cover most of the human lifespan. To achieve this, we selected the best-performing model after systematically examining the impact of seven site harmonization strategies, age range, and sample size on brain-age prediction in a discovery sample of brain morphometric measures from 35,683 healthy individuals (age range: 5–90 years; 53.59% female). The pre-trained models were tested for cross-dataset generalizability in an independent sample comprising 2101 healthy individuals (age range: 8–80 years; 55.35% female) and for longitudinal consistency in a further sample comprising 377 healthy individuals (age range: 9–25 years; 49.87% female). This empirical examination yielded the following findings: (1) the accuracy of age prediction from morphometry data was higher when no site harmonization was applied; (2) dividing the discovery sample into two age-bins (5–40 and 40–90 years) provided a better balance between model accuracy and explained age variance than other alternatives; (3) model accuracy for brain-age prediction plateaued at a sample size exceeding 1600 participants. These findings have been incorporated into CentileBrain (https://centilebrain.org/#/brainAGE2), an open-science, web-based platform for individualized neuroimaging metrics.
  • Cutler, A. (1979). Beyond parsing and lexical look-up. In R. J. Wales, & E. C. T. Walker (Eds.), New approaches to language mechanisms: a collection of psycholinguistic studies (pp. 133-149). Amsterdam: North-Holland.
  • Cutler, A. (1979). Contemporary reaction to Rudolf Meringer’s speech error research. Historiograpia Linguistica, 6, 57-76.
  • Cutler, A. (2001). Entries on: Acquisition of language by non-human primates; bilingualism; compound (linguistic); development of language-specific phonology; gender (linguistic); grammar; infant speech perception; language; lexicon; morphology; motor theory of speech perception; perception of second languages; phoneme; phonological store; phonology; prosody; sign language; slips of the tongue; speech perception; speech production; stress (linguistic); syntax; word recognition; words. In P. Winn (Ed.), Dictionary of biological psychology. London: Routledge.
  • Cutler, A., & McQueen, J. M. (2014). How prosody is both mandatory and optional. In J. Caspers, Y. Chen, W. Heeren, J. Pacilly, N. O. Schiller, & E. Van Zanten (Eds.), Above and Beyond the Segments: Experimental linguistics and phonetics (pp. 71-82). Amsterdam: Benjamins.

    Abstract

    Speech signals originate as a sequence of linguistic units selected by speakers, but these units are necessarily realised in the suprasegmental dimensions of time, frequency and amplitude. For this reason prosodic structure has been viewed as a mandatory target of language processing by both speakers and listeners. In apparent contradiction, however, prosody has also been argued to be ancillary rather than core linguistic structure, making processing of prosodic structure essentially optional. In the present tribute to one of the luminaries of prosodic research for the past quarter century, we review evidence from studies of the processing of lexical stress and focal accent which reconciles these views and shows that both claims are, each in their own way, fully true.
  • Cutler, A. (2014). In thrall to the vocabulary. Acoustics Australia, 42, 84-89.

    Abstract

    Vocabularies contain hundreds of thousands of words built from only a handful of phonemes; longer words inevitably tend to contain shorter ones. Recognising speech thus requires distinguishing intended words from accidentally present ones. Acoustic information in speech is used wherever it contributes significantly to this process; but as this review shows, its contribution differs across languages, with the consequences of this including: identical and equivalently present information distinguishing the same phonemes being used in Polish but not in German, or in English but not in Italian; identical stress cues being used in Dutch but not in English; expectations about likely embedding patterns differing across English, French, Japanese.
  • Cutler, A., & Norris, D. (1979). Monitoring sentence comprehension. In W. E. Cooper, & E. C. T. Walker (Eds.), Sentence processing: Psycholinguistic studies presented to Merrill Garrett (pp. 113-134). Hillsdale: Erlbaum.
  • Cutler, A. (2001). Listening to a second language through the ears of a first. Interpreting, 5, 1-23.
  • Cutler, A. (1998). Prosodic structure and word recognition. In A. D. Friederici (Ed.), Language comprehension: A biological perspective (pp. 41-70). Heidelberg: Springer.
  • Cutler, A., McQueen, J. M., Norris, D., & Somejuan, A. (2001). The roll of the silly ball. In E. Dupoux (Ed.), Language, brain and cognitive development: Essays in honor of Jacques Mehler (pp. 181-194). Cambridge, MA: MIT Press.
  • Cutler, A., & Van Donselaar, W. (2001). Voornaam is not a homophone: Lexical prosody and lexical access in Dutch. Language and Speech, 44, 171-195. doi:10.1177/00238309010440020301.

    Abstract

    Four experiments examined Dutch listeners’ use of suprasegmental information in spoken-word recognition. Isolated syllables excised from minimal stress pairs such as VOORnaam/voorNAAM could be reliably assigned to their source words. In lexical decision, no priming was observed from one member of minimal stress pairs to the other, suggesting that the pairs’ segmental ambiguity was removed by suprasegmental information.Words embedded in nonsense strings were harder to detect if the nonsense string itself formed the beginning of a competing word, but a suprasegmental mismatch to the competing word significantly reduced this inhibition. The same nonsense strings facilitated recognition of the longer words of which they constituted the beginning, butagain the facilitation was significantly reduced by suprasegmental mismatch. Together these results indicate that Dutch listeners effectively exploit suprasegmental cues in recognizing spoken words. Nonetheless, suprasegmental mismatch appears to be somewhat less effective in constraining activation than segmental mismatch.
  • Cutler, A., & Fay, D. (1975). You have a Dictionary in your Head, not a Thesaurus. Texas Linguistic Forum, 1, 27-40.
  • D'Alessandra, Y., Carena, M. C., Spazzafumo, L., Martinelli, F., Bassetti, B., Devanna, P., Rubino, M., Marenzi, G., Colombo, G. I., Achilli, F., Maggiolini, S., Capogrossi, M. C., & Pompilio, G. (2013). Diagnostic Potential of Plasmatic MicroRNA Signatures in Stable and Unstable Angina. PLoS ONE, 8(11), e80345. doi:10.1371/journal.pone.0080345.

    Abstract

    PURPOSE: We examined circulating miRNA expression profiles in plasma of patients with coronary artery disease (CAD) vs. matched controls, with the aim of identifying novel discriminating biomarkers of Stable (SA) and Unstable (UA) angina. METHODS: An exploratory analysis of plasmatic expression profile of 367 miRNAs was conducted in a group of SA and UA patients and control donors, using TaqMan microRNA Arrays. Screening confirmation and expression analysis were performed by qRT-PCR: all miRNAs found dysregulated were examined in the plasma of troponin-negative UA (n=19) and SA (n=34) patients and control subjects (n=20), matched for sex, age, and cardiovascular risk factors. In addition, the expression of 14 known CAD-associated miRNAs was also investigated. RESULTS: Out of 178 miRNAs consistently detected in plasma samples, 3 showed positive modulation by CAD when compared to controls: miR-337-5p, miR-433, and miR-485-3p. Further, miR-1, -122, -126, -133a, -133b, and miR-199a were positively modulated in both UA and SA patients, while miR-337-5p and miR-145 showed a positive modulation only in SA or UA patients, respectively. ROC curve analyses showed a good diagnostic potential (AUC ≥ 0.85) for miR-1, -126, and -483-5p in SA and for miR-1, -126, and -133a in UA patients vs. controls, respectively. No discriminating AUC values were observed comparing SA vs. UA patients. Hierarchical cluster analysis showed that the combination of miR-1, -133a, and -126 in UA and of miR-1, -126, and -485-3p in SA correctly classified patients vs. controls with an efficiency ≥ 87%. No combination of miRNAs was able to reliably discriminate patients with UA from patients with SA. CONCLUSIONS: This work showed that specific plasmatic miRNA signatures have the potential to accurately discriminate patients with angiographically documented CAD from matched controls. We failed to identify a plasmatic miRNA expression pattern capable to differentiate SA from UA patients.
  • Dalla Bella, S., Janaqi, S., Benoit, C.-E., Farrugia, N., Bégel, V., Verga, L., Harding, E. E., & Kotz, S. A. (2024). Unravelling individual rhythmic abilities using machine learning. Scientific Reports, 14(1): 1135. doi:10.1038/s41598-024-51257-7.

    Abstract

    Humans can easily extract the rhythm of a complex sound, like music, and move to its regular beat, like in dance. These abilities are modulated by musical training and vary significantly in untrained individuals. The causes of this variability are multidimensional and typically hard to grasp in single tasks. To date we lack a comprehensive model capturing the rhythmic fingerprints of both musicians and non-musicians. Here we harnessed machine learning to extract a parsimonious model of rhythmic abilities, based on behavioral testing (with perceptual and motor tasks) of individuals with and without formal musical training (n = 79). We demonstrate that variability in rhythmic abilities and their link with formal and informal music experience can be successfully captured by profiles including a minimal set of behavioral measures. These findings highlight that machine learning techniques can be employed successfully to distill profiles of rhythmic abilities, and ultimately shed light on individual variability and its relationship with both formal musical training and informal musical experiences.

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  • Damian, M. F., Vigliocco, G., & Levelt, W. J. M. (2001). Effects of semantic context in the naming of pictures and words. Cognition, 81, B77-B86. doi:10.1016/S0010-0277(01)00135-4.

    Abstract

    Two experiments investigated whether lexical retrieval for speaking can be characterized as a competitive process by assessing the effects of semantic context on picture and word naming in German. In Experiment 1 we demonstrated that pictures are named slower in the context of same-category items than in the context of items from various semantic categories, replicating findings by Kroll and Stewart (Journal of Memory and Language, 33 (1994) 149). In Experiment 2 we used words instead of pictures. Participants either named the words in the context of same- or different-category items, or produced the words together with their corresponding determiner. While in the former condition words were named faster in the context of samecategory items than of different-category items, the opposite pattern was obtained for the latter condition. These findings confirm the claim that the interfering effect of semantic context reflects competition in the retrieval of lexical entries in speaking.
  • Dastjerdi, M., Ozker, M., Foster, B. L., Rangarajan, V., & Parvizi, J. (2013). Numerical processing in the human parietal cortex during experimental and natural conditions. Nature Communications, 4: 2528. doi:10.1038/ncomms3528.

    Abstract

    Human cognition is traditionally studied in experimental conditions wherein confounding complexities of the natural environment are intentionally eliminated. Thus, it remains unknown how a brain region involved in a particular experimental condition is engaged in natural conditions. Here we use electrocorticography to address this uncertainty in three participants implanted with intracranial electrodes and identify activations of neuronal populations within the intraparietal sulcus region during an experimental arithmetic condition. In a subsequent analysis, we report that the same intraparietal sulcus neural populations are activated when participants, engaged in social conversations, refer to objects with numerical content. Our prototype approach provides a means for both exploring human brain dynamics as they unfold in complex social settings and reconstructing natural experiences from recorded brain signals.
  • Dautriche, I., Cristia, A., Brusini, P., Yuan, S., Fisher, C., & Christophe, A. (2014). Toddlers default to canonical surface-to-meaning mapping when learning verbs. Child Development, 85(3), 1168-1180. doi:10.1111/cdev.12183.

    Abstract

    This work was supported by grants from the French Agence Nationale de la Recherche (ANR-2010-BLAN-1901) and from French Fondation de France to Anne Christophe, from the National Institute of Child Health and Human Development (HD054448) to Cynthia Fisher, Fondation Fyssen and Ecole de Neurosciences de Paris to Alex Cristia, and a PhD fellowship from the Direction Générale de l'Armement (DGA, France) supported by the PhD program FdV (Frontières du Vivant) to Isabelle Dautriche. We thank Isabelle Brunet for the recruitment, Michel Dutat for the technical support, and Hernan Anllo for his puppet mastery skill. We are grateful to the families that participated in this study. We also thank two anonymous reviewers for their comments on an earlier draft of this manuscript.
  • Davidson, D., & Martin, A. E. (2013). Modeling accuracy as a function of response time with the generalized linear mixed effects model. Acta Psychologica, 144(1), 83-96. doi:10.1016/j.actpsy.2013.04.016.

    Abstract

    In psycholinguistic studies using error rates as a response measure, response times (RT) are most often analyzed independently of the error rate, although it is widely recognized that they are related. In this paper we present a mixed effects logistic regression model for the error rate that uses RT as a trial-level fixed- and random-effect regression input. Production data from a translation–recall experiment are analyzed as an example. Several model comparisons reveal that RT improves the fit of the regression model for the error rate. Two simulation studies then show how the mixed effects regression model can identify individual participants for whom (a) faster responses are more accurate, (b) faster responses are less accurate, or (c) there is no relation between speed and accuracy. These results show that this type of model can serve as a useful adjunct to traditional techniques, allowing psycholinguistic researchers to examine more closely the relationship between RT and accuracy in individual subjects and better account for the variability which may be present, as well as a preliminary step to more advanced RT–accuracy modeling.
  • Debreslioska, S., Ozyurek, A., Gullberg, M., & Perniss, P. M. (2013). Gestural viewpoint signals referent accessibility. Discourse Processes, 50(7), 431-456. doi:10.1080/0163853x.2013.824286.

    Abstract

    The tracking of entities in discourse is known to be a bimodal phenomenon. Speakers achieve cohesion in speech by alternating between full lexical forms, pronouns, and zero anaphora as they track referents. They also track referents in co-speech gestures. In this study, we explored how viewpoint is deployed in reference tracking, focusing on representations of animate entities in German narrative discourse. We found that gestural viewpoint systematically varies depending on discourse context. Speakers predominantly use character viewpoint in maintained contexts and observer viewpoint in reintroduced contexts. Thus, gestural viewpoint seems to function as a cohesive device in narrative discourse. The findings expand on and provide further evidence for the coordination between speech and gesture on the discourse level that is crucial to understanding the tight link between the two modalities.
  • Dediu, D., Cysouw, M., Levinson, S. C., Baronchelli, A., Christiansen, M. H., Croft, W., Evans, N., Garrod, S., Gray, R., Kandler, A., & Lieven, E. (2013). Cultural evolution of language. In P. J. Richerson, & M. H. Christiansen (Eds.), Cultural evolution: Society, technology, language, and religion. Strüngmann Forum Reports, vol. 12 (pp. 303-332). Cambridge, Mass: MIT Press.

    Abstract

    This chapter argues that an evolutionary cultural approach to language not only has already proven fruitful, but it probably holds the key to understand many puzzling aspects of language, its change and origins. The chapter begins by highlighting several still common misconceptions about language that might seem to call into question a cultural evolutionary approach. It explores the antiquity of language and sketches a general evolutionary approach discussing the aspects of function, fi tness, replication, and selection, as well the relevant units of linguistic evolution. In this context, the chapter looks at some fundamental aspects of linguistic diversity such as the nature of the design space, the mechanisms generating it, and the shape and fabric of language. Given that biology is another evolutionary system, its complex coevolution with language needs to be understood in order to have a proper theory of language. Throughout the chapter, various challenges are identifi ed and discussed, sketching promising directions for future research. The chapter ends by listing the necessary data, methods, and theoretical developments required for a grounded evolutionary approach to language.
  • Dediu, D. (2013). Genes: Interactions with language on three levels — Inter-individual variation, historical correlations and genetic biasing. In P.-M. Binder, & K. Smith (Eds.), The language phenomenon: Human communication from milliseconds to millennia (pp. 139-161). Berlin: Springer. doi:10.1007/978-3-642-36086-2_7.

    Abstract

    The complex inter-relationships between genetics and linguistics encompass all four scales highlighted by the contributions to this book and, together with cultural transmission, the genetics of language holds the promise to offer a unitary understanding of this fascinating phenomenon. There are inter-individual differences in genetic makeup which contribute to the obvious fact that we are not identical in the way we understand and use language and, by studying them, we will be able to both better treat and enhance ourselves. There are correlations between the genetic configuration of human groups and their languages, reflecting the historical processes shaping them, and there also seem to exist genes which can influence some characteristics of language, biasing it towards or against certain states by altering the way language is transmitted across generations. Besides the joys of pure knowledge, the understanding of these three aspects of genetics relevant to language will potentially trigger advances in medicine, linguistics, psychology or the understanding of our own past and, last but not least, a profound change in the way we regard one of the emblems of being human: our capacity for language.
  • Dediu, D., & Graham, S. A. (2014). Genetics and Language. In M. Aronoff (Ed.), Oxford Bibliographies in Linguistics. New York: Oxford University Press. Retrieved from http://www.oxfordbibliographies.com/view/document/obo-9780199772810/obo-9780199772810-0184.xml.

    Abstract

    This article surveys what is currently known about the complex interplay between genetics and the language sciences. It focuses not only on the genetic architecture of language and speech, but also on their interactions on the cultural and evolutionary timescales. Given the complexity of these issues and their current state of flux and high dynamism, this article surveys the main findings and topics of interest while also briefly introducing the main relevant methods, thus allowing the interested reader to fully appreciate and understand them in their proper context. Of course, not all the relevant publications and resources are mentioned, but this article aims to select the most relevant, promising, or accessible for nonspecialists.

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  • Dediu, D. (2014). Language and biology: The multiple interactions between genetics and language. In N. J. Enfield, P. Kockelman, & J. Sidnell (Eds.), The Cambridge handbook of linguistic anthropology (pp. 686-707). Cambridge: Cambridge University Press.
  • Dediu, D., & Levinson, S. C. (2013). On the antiquity of language: The reinterpretation of Neandertal linguistic capacities and its consequences. Frontiers in Language Sciences, 4: 397. doi:10.3389/fpsyg.2013.00397.

    Abstract

    It is usually assumed that modern language is a recent phenomenon, coinciding with the emergence of modern humans themselves. Many assume as well that this is the result of a single, sudden mutation giving rise to the full “modern package”. However, we argue here that recognizably modern language is likely an ancient feature of our genus pre-dating at least the common ancestor of modern humans and Neandertals about half a million years ago. To this end, we adduce a broad range of evidence from linguistics, genetics, palaeontology and archaeology clearly suggesting that Neandertals shared with us something like modern speech and language. This reassessment of the antiquity of modern language, from the usually quoted 50,000-100,000 years to half a million years, has profound consequences for our understanding of our own evolution in general and especially for the sciences of speech and language. As such, it argues against a saltationist scenario for the evolution of language, and towards a gradual process of culture-gene co-evolution extending to the present day. Another consequence is that the present-day linguistic diversity might better reflect the properties of the design space for language and not just the vagaries of history, and could also contain traces of the languages spoken by other human forms such as the Neandertals.
  • Dediu, D., & Cysouw, M. A. (2013). Some structural aspects of language are more stable than others: A comparison of seven methods. PLoS One, 8: e55009. doi:10.1371/journal.pone.0055009.

    Abstract

    Understanding the patterns and causes of differential structural stability is an area of major interest for the study of language change and evolution. It is still debated whether structural features have intrinsic stabilities across language families and geographic areas, or if the processes governing their rate of change are completely dependent upon the specific context of a given language or language family. We conducted an extensive literature review and selected seven different approaches to conceptualising and estimating the stability of structural linguistic features, aiming at comparing them using the same dataset, the World Atlas of Language Structures. We found that, despite profound conceptual and empirical differences between these methods, they tend to agree in classifying some structural linguistic features as being more stable than others. This suggests that there are intrinsic properties of such structural features influencing their stability across methods, language families and geographic areas. This finding is a major step towards understanding the nature of structural linguistic features and their interaction with idiosyncratic, lineage- and area-specific factors during language change and evolution.
  • Dediu, D., & Levinson, S. C. (2014). The time frame of the emergence of modern language and its implications. In D. Dor, C. Knight, & J. Lewis (Eds.), The social origins of language (pp. 184-195). Oxford: Oxford University Press.
  • Defina, R. (2014). Arbil: Free tool for creating, editing and searching metadata. Language Documentation and Conservation, 8, 307-314.
  • Defina, R., Dingemanse, M., & Van Putten, S. (2024). Linguistic fieldwork as team science. In E. Aboh (Ed.), Predication in African Languages (pp. 20-42). Amsterdam: John Benjamins. doi:10.1075/slcs.235.01def.

    Abstract


    Linguistic fieldwork is increasingly moving forward from the traditional model of lone fieldworker with a notebook to collaborative projects with key roles for native speakers and other experts and involving the use of different kinds of stimulus-based elicitation methods as well as extensive video documentation. Several cohorts of colleagues and students have been influenced by this inclusive and interdisciplinary view of linguistic fieldwork. We describe the challenges and benefits of doing multi-methods collaborative fieldwork. As linguistics inevitably moves into the direction of multiple methods, interdisciplinarity and team science, now is the time to reflect critically on how best to contribute to a cumulative science of language.
  • den Hoed, M., Eijgelsheim, M., Esko, T., Brundel, B. J. J. M., Peal, D. S., Evans, D. M., Nolte, I. M., Segrè, A. V., Holm, H., Handsaker, R. E., Westra, H.-J., Johnson, T., Isaacs, A., Yang, J., Lundby, A., Zhao, J. H., Kim, Y. J., Go, M. J., Almgren, P., Bochud, M. and 249 moreden Hoed, M., Eijgelsheim, M., Esko, T., Brundel, B. J. J. M., Peal, D. S., Evans, D. M., Nolte, I. M., Segrè, A. V., Holm, H., Handsaker, R. E., Westra, H.-J., Johnson, T., Isaacs, A., Yang, J., Lundby, A., Zhao, J. H., Kim, Y. J., Go, M. J., Almgren, P., Bochud, M., Boucher, G., Cornelis, M. C., Gudbjartsson, D., Hadley, D., van der Harst, P., Hayward, C., den Heijer, M., Igl, W., Jackson, A. U., Kutalik, Z., Luan, J., Kemp, J. P., Kristiansson, K., Ladenvall, C., Lorentzon, M., Montasser, M. E., Njajou, O. T., O'Reilly, P. F., Padmanabhan, S., St Pourcain, B., Rankinen, T., Salo, P., Tanaka, T., Timpson, N. J., Vitart, V., Waite, L., Wheeler, W., Zhang, W., Draisma, H. H. M., Feitosa, M. F., Kerr, K. F., Lind, P. A., Mihailov, E., Onland-Moret, N. C., Song, C., Weedon, M. N., Xie, W., Yengo, L., Absher, D., Albert, C. M., Alonso, A., Arking, D. E., de Bakker, P. I. W., Balkau, B., Barlassina, C., Benaglio, P., Bis, J. C., Bouatia-Naji, N., Brage, S., Chanock, S. J., Chines, P. S., Chung, M., Darbar, D., Dina, C., Dörr, M., Elliott, P., Felix, S. B., Fischer, K., Fuchsberger, C., de Geus, E. J. C., Goyette, P., Gudnason, V., Harris, T. B., Hartikainen, A.-L., Havulinna, A. S., Heckbert, S. R., Hicks, A. A., Hofman, A., Holewijn, S., Hoogstra-Berends, F., Hottenga, J.-J., Jensen, M. K., Johansson, A., Junttila, J., Kääb, S., Kanon, B., Ketkar, S., Khaw, K.-T., Knowles, J. W., Kooner, A. S., Kors, J. A., Kumari, M., Milani, L., Laiho, P., Lakatta, E. G., Langenberg, C., Leusink, M., Liu, Y., Luben, R. N., Lunetta, K. L., Lynch, S. N., Markus, M. R. P., Marques-Vidal, P., Mateo Leach, I., McArdle, W. L., McCarroll, S. A., Medland, S. E., Miller, K. A., Montgomery, G. W., Morrison, A. C., Müller-Nurasyid, M., Navarro, P., Nelis, M., O'Connell, J. R., O'Donnell, C. J., Ong, K. K., Newman, A. B., Peters, A., Polasek, O., Pouta, A., Pramstaller, P. P., Psaty, B. M., Rao, D. C., Ring, S. M., Rossin, E. J., Rudan, D., Sanna, S., Scott, R. A., Sehmi, J. S., Sharp, S., Shin, J. T., Singleton, A. B., Smith, A. V., Soranzo, N., Spector, T. D., Stewart, C., Stringham, H. M., Tarasov, K. V., Uitterlinden, A. G., Vandenput, L., Hwang, S.-J., Whitfield, J. B., Wijmenga, C., Wild, S. H., Willemsen, G., Wilson, J. F., Witteman, J. C. M., Wong, A., Wong, Q., Jamshidi, Y., Zitting, P., Boer, J. M. A., Boomsma, D. I., Borecki, I. B., van Duijn, C. M., Ekelund, U., Forouhi, N. G., Froguel, P., Hingorani, A., Ingelsson, E., Kivimaki, M., Kronmal, R. A., Kuh, D., Lind, L., Martin, N. G., Oostra, B. A., Pedersen, N. L., Quertermous, T., Rotter, J. I., van der Schouw, Y. T., Verschuren, W. M. M., Walker, M., Albanes, D., Arnar, D. O., Assimes, T. L., Bandinelli, S., Boehnke, M., de Boer, R. A., Bouchard, C., Caulfield, W. L. M., Chambers, J. C., Curhan, G., Cusi, D., Eriksson, J., Ferrucci, L., van Gilst, W. H., Glorioso, N., de Graaf, J., Groop, L., Gyllensten, U., Hsueh, W.-C., Hu, F. B., Huikuri, H. V., Hunter, D. J., Iribarren, C., Isomaa, B., Jarvelin, M.-R., Jula, A., Kähönen, M., Kiemeney, L. A., van der Klauw, M. M., Kooner, J. S., Kraft, P., Iacoviello, L., Lehtimäki, T., Lokki, M.-L.-L., Mitchell, B. D., Navis, G., Nieminen, M. S., Ohlsson, C., Poulter, N. R., Qi, L., Raitakari, O. T., Rimm, E. B., Rioux, J. D., Rizzi, F., Rudan, I., Salomaa, V., Sever, P. S., Shields, D. C., Shuldiner, A. R., Sinisalo, J., Stanton, A. V., Stolk, R. P., Strachan, D. P., Tardif, J.-C., Thorsteinsdottir, U., Tuomilehto, J., van Veldhuisen, D. J., Virtamo, J., Viikari, J., Vollenweider, P., Waeber, G., Widen, E., Cho, Y. S., Olsen, J. V., Visscher, P. M., Willer, C., Franke, L., Erdmann, J., Thompson, J. R., Pfeufer, A., Sotoodehnia, N., Newton-Cheh, C., Ellinor, P. T., Stricker, B. H. C., Metspalu, A., Perola, M., Beckmann, J. S., Smith, G. D., Stefansson, K., Wareham, N. J., Munroe, P. B., Sibon, O. C. M., Milan, D. J., Snieder, H., Samani, N. J., Loos, R. J. F., Global BPgen Consortium, CARDIoGRAM Consortium, PR GWAS Consortium, QRS GWAS Consortium, QT-IGC Consortium, & CHARGE-AF Consortium (2013). Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nature Genetics, 45(6), 621-631. doi:10.1038/ng.2610.

    Abstract

    Elevated resting heart rate is associated with greater risk of cardiovascular disease and mortality. In a 2-stage meta-analysis of genome-wide association studies in up to 181,171 individuals, we identified 14 new loci associated with heart rate and confirmed associations with all 7 previously established loci. Experimental downregulation of gene expression in Drosophila melanogaster and Danio rerio identified 20 genes at 11 loci that are relevant for heart rate regulation and highlight a role for genes involved in signal transmission, embryonic cardiac development and the pathophysiology of dilated cardiomyopathy, congenital heart failure and/or sudden cardiac death. In addition, genetic susceptibility to increased heart rate is associated with altered cardiac conduction and reduced risk of sick sinus syndrome, and both heart rate-increasing and heart rate-decreasing variants associate with risk of atrial fibrillation. Our findings provide fresh insights into the mechanisms regulating heart rate and identify new therapeutic targets.
  • Deriziotis, P., O'Roak, B. J., Graham, S. A., Estruch, S. B., Dimitropoulou, D., Bernier, R. A., Gerdts, J., Shendure, J., Eichler, E. E., & Fisher, S. E. (2014). De novo TBR1 mutations in sporadic autism disrupt protein functions. Nature Communications, 5: 4954. doi:10.1038/ncomms5954.

    Abstract

    Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of protein function can illuminate crucial molecular networks. Here we demonstrate the power of the approach, performing the first functional analyses of TBR1 variants identified in sporadic autism. De novo truncating and missense mutations disrupt multiple aspects of TBR1 function, including subcellular localization, interactions with co-regulators and transcriptional repression. Missense mutations inherited from unaffected parents did not disturb function in our assays. We show that TBR1 homodimerizes, that it interacts with FOXP2, a transcription factor implicated in speech/language disorders, and that this interaction is disrupted by pathogenic mutations affecting either protein. These findings support the hypothesis that de novo mutations in sporadic autism have severe functional consequences. Moreover, they uncover neurogenetic mechanisms that bridge different neurodevelopmental disorders involving language deficits.
  • Deriziotis, P., Graham, S. A., Estruch, S. B., & Fisher, S. E. (2014). Investigating protein-protein interactions in live cells using Bioluminescence Resonance Energy Transfer. Journal of visualized experiments, 87: e51438. doi:10.3791/51438.

    Abstract

    Assays based on Bioluminescence Resonance Energy Transfer (BRET) provide a sensitive and reliable means to monitor protein-protein interactions in live cells. BRET is the non-radiative transfer of energy from a ‘donor’ luciferase enzyme to an ‘acceptor’ fluorescent protein. In the most common configuration of this assay, the donor is Renilla reniformis luciferase and the acceptor is Yellow Fluorescent Protein (YFP). Because the efficiency of energy transfer is strongly distance-dependent, observation of the BRET phenomenon requires that the donor and acceptor be in close proximity. To test for an interaction between two proteins of interest in cultured mammalian cells, one protein is expressed as a fusion with luciferase and the second as a fusion with YFP. An interaction between the two proteins of interest may bring the donor and acceptor sufficiently close for energy transfer to occur. Compared to other techniques for investigating protein-protein interactions, the BRET assay is sensitive, requires little hands-on time and few reagents, and is able to detect interactions which are weak, transient, or dependent on the biochemical environment found within a live cell. It is therefore an ideal approach for confirming putative interactions suggested by yeast two-hybrid or mass spectrometry proteomics studies, and in addition it is well-suited for mapping interacting regions, assessing the effect of post-translational modifications on protein-protein interactions, and evaluating the impact of mutations identified in patient DNA.

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  • Deriziotis, P., & Fisher, S. E. (2013). Neurogenomics of speech and language disorders: The road ahead. Genome Biology, 14: 204. doi:10.1186/gb-2013-14-4-204.

    Abstract

    Next-generation sequencing is set to transform the discovery of genes underlying neurodevelopmental disorders, and so off er important insights into the biological bases of spoken language. Success will depend on functional assessments in neuronal cell lines, animal models and humans themselves.
  • Devanna, P., & Vernes, S. C. (2014). A direct molecular link between the autism candidate gene RORa and the schizophrenia candidate MIR137. Scientific Reports, 4: 3994. doi:10.1038/srep03994.

    Abstract

    Retinoic acid-related orphan receptor alpha gene (RORa) and the microRNA MIR137 have both recently been identified as novel candidate genes for neuropsychiatric disorders. RORa encodes a ligand-dependent orphan nuclear receptor that acts as a transcriptional regulator and miR-137 is a brain enriched small non-coding RNA that interacts with gene transcripts to control protein levels. Given the mounting evidence for RORa in autism spectrum disorders (ASD) and MIR137 in schizophrenia and ASD, we investigated if there was a functional biological relationship between these two genes. Herein, we demonstrate that miR-137 targets the 3'UTR of RORa in a site specific manner. We also provide further support for MIR137 as an autism candidate by showing that a large number of previously implicated autism genes are also putatively targeted by miR-137. This work supports the role of MIR137 as an ASD candidate and demonstrates a direct biological link between these previously unrelated autism candidate genes
  • Devanna, P., Middelbeek, J., & Vernes, S. C. (2014). FOXP2 drives neuronal differentiation by interacting with retinoic acid signaling pathways. Frontiers in Cellular Neuroscience, 8: 305. doi:10.3389/fncel.2014.00305.

    Abstract

    FOXP2 was the first gene shown to cause a Mendelian form of speech and language disorder. Although developmentally expressed in many organs, loss of a single copy of FOXP2 leads to a phenotype that is largely restricted to orofacial impairment during articulation and linguistic processing deficits. Why perturbed FOXP2 function affects specific aspects of the developing brain remains elusive. We investigated the role of FOXP2 in neuronal differentiation and found that FOXP2 drives molecular changes consistent with neuronal differentiation in a human model system. We identified a network of FOXP2 regulated genes related to retinoic acid signaling and neuronal differentiation. FOXP2 also produced phenotypic changes associated with neuronal differentiation including increased neurite outgrowth and reduced migration. Crucially, cells expressing FOXP2 displayed increased sensitivity to retinoic acid exposure. This suggests a mechanism by which FOXP2 may be able to increase the cellular differentiation response to environmental retinoic acid cues for specific subsets of neurons in the brain. These data demonstrate that FOXP2 promotes neuronal differentiation by interacting with the retinoic acid signaling pathway and regulates key processes required for normal circuit formation such as neuronal migration and neurite outgrowth. In this way, FOXP2, which is found only in specific subpopulations of neurons in the brain, may drive precise neuronal differentiation patterns and/or control localization and connectivity of these FOXP2 positive cells
  • Devaraju, K., Barnabé-Heider, F., Kokaia, Z., & Lindvall, O. (2013). FoxJ1-expressing cells contribute to neurogenesis in forebrain of adult rats: Evidence from in vivo electroporation combined with piggyBac transposon. ScienceDirect, 319(18), 2790-2800. doi:10.1016/j.yexcr.2013.08.028.

    Abstract

    Ependymal cells in the lateral ventricular wall are considered to be post-mitotic but can give rise to neuroblasts and astrocytes after stroke in adult mice due to insult-induced suppression of Notch signaling. The transcription factor FoxJ1, which has been used to characterize mouse ependymal cells, is also expressed by a subset of astrocytes. Cells expressing FoxJ1, which drives the expression of motile cilia, contribute to early postnatal neurogenesis in mouse olfactory bulb. The distribution and progeny of FoxJ1-expressing cells in rat forebrain are unknown. Here we show using immunohistochemistry that the overall majority of FoxJ1-expressing cells in the lateral ventricular wall of adult rats are ependymal cells with a minor population being astrocytes. To allow for long-term fate mapping of FoxJ1-derived cells, we used the piggyBac system for in vivo gene transfer with electroporation. Using this method, we found that FoxJ1-expressing cells, presumably the astrocytes, give rise to neuroblasts and mature neurons in the olfactory bulb both in intact and stroke-damaged brain of adult rats. No significant contribution of FoxJ1-derived cells to stroke-induced striatal neurogenesis was detected. These data indicate that in the adult rat brain, FoxJ1-expressing cells contribute to the formation of new neurons in the olfactory bulb but are not involved in the cellular repair after stroke.

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